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Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 101794

Gene

GeneSubmissionsLast Updated
A2M2Jan 27, 2026
A2ML1249Jun 13, 2025
A2ML1-AS132Jun 13, 2025
AAAS28Apr 30, 2026
AARS160Apr 30, 2026
AARS211May 2, 2025
AASS9Apr 30, 2026
ABAT6May 23, 2025
ABCA1189Apr 30, 2026
ABCA1264Apr 30, 2026
ABCA28Feb 3, 2026
ABCA355Apr 30, 2026
ABCA4234Apr 30, 2026
ABCA735Apr 30, 2026
ABCB1197Apr 30, 2026
ABCB492Apr 30, 2026
ABCB61Jul 1, 2025
ABCB78Dec 12, 2025
ABCC215Oct 28, 2025
ABCC68May 23, 2025
ABCC8358May 1, 2026
ABCC9109Apr 30, 2026
ABCD1103Apr 30, 2026
ABCD424Apr 30, 2026
ABCG569Apr 30, 2026
ABCG8124Apr 30, 2026
ABHD1220Apr 30, 2026
ABHD14A-ACY110Apr 30, 2026
ABHD16A1Jun 16, 2025
ABL14Dec 12, 2025
ABRAXAS1103Apr 30, 2026
ACACA4Jul 9, 2024
ACAD111Jun 16, 2025
ACAD82Apr 30, 2026
ACAD944Feb 3, 2026
ACADM116Apr 30, 2026
ACADS32Apr 30, 2026
ACADSB18Dec 12, 2025
ACADVL161Apr 30, 2026
ACAN97Apr 30, 2026
ACAT149Feb 3, 2026
ACAT21Nov 14, 2023
ACBD51May 23, 2025
ACBD613Apr 30, 2026
ACD5Dec 12, 2025
ACE4Dec 9, 2025
ACER32Mar 6, 2020
ACO28Feb 3, 2026
ACOX114Apr 30, 2026
ACOX22Aug 8, 2024
ACP21Mar 14, 2025
ACP42Dec 9, 2025
ACP515Apr 30, 2026
ACSF352Apr 30, 2026
ACSL46Jun 13, 2025
ACSM31Dec 26, 2023
ACTA15Apr 30, 2026
ACTA230Apr 30, 2026
ACTA2-AS19Apr 30, 2026
ACTB12Apr 30, 2026
ACTC142Apr 30, 2026
ACTG124Apr 30, 2026
ACTL6B5Feb 3, 2026
ACTN111Feb 3, 2026
ACTN2100Apr 30, 2026
ACVR19Apr 30, 2026
ACVRL123Apr 30, 2026
ACY110Apr 30, 2026
ACYP12Apr 30, 2026
ADA67Apr 30, 2026
ADA229Apr 30, 2026
ADAM1725Apr 30, 2026
ADAMTS1371Apr 30, 2026
ADAMTS192Jun 29, 2024
ADAMTS2257May 1, 2026
ADAMTSL24Dec 9, 2025
ADAMTSL48Apr 30, 2026
ADAMTSL4-AS25Apr 30, 2026
ADAR27Apr 30, 2026
ADAT32Dec 31, 2020
ADCY11Jan 26, 2024
ADCY101Feb 14, 2025
ADCY517Apr 30, 2026
ADCY61Mar 14, 2025
ADD31Oct 27, 2023
ADGRG120Apr 30, 2026
ADGRG67Apr 30, 2026
ADGRL119Apr 30, 2026
ADGRL1-AS118Apr 30, 2026
ADGRV1265Apr 30, 2026
ADH1C1Apr 30, 2026
ADK2Feb 3, 2026
ADNP29Apr 30, 2026
ADNP-AS12Feb 3, 2026
ADRA2B3Feb 3, 2026
ADSL11Apr 30, 2026
ADSS18Apr 30, 2026
AEBP1208Apr 30, 2026
AFF213Apr 30, 2026
AFF35Feb 3, 2026
AFF47Feb 3, 2026
AFG2A19Apr 30, 2026
AFG2B2Dec 9, 2025
AFG3L237Apr 30, 2026
AGA22Apr 30, 2026
AGA-DT2Apr 30, 2026
AGBL51Jan 11, 2023
AGK3Apr 30, 2026
AGL77Apr 30, 2026
AGMO1Dec 11, 2024
AGO14May 2, 2025
AGO210Apr 30, 2026
AGPAT28Apr 30, 2026
AGPS11Dec 9, 2025
AGRN15Apr 30, 2026
AGT1Mar 14, 2025
AGTPBP12Mar 14, 2025
AGTR21Apr 30, 2026
AGXT88Apr 30, 2026
AHCY2Oct 23, 2024
AHDC118Apr 30, 2026
AHI147Apr 30, 2026
AICDA13Feb 3, 2026
AIFM120May 1, 2026
AIFM31Jul 1, 2025
AIMP15Dec 11, 2024
AIP1Dec 9, 2025
AIPL128Apr 30, 2026
AIRE78Apr 30, 2026
AK214Feb 3, 2026
AKAP9166Apr 30, 2026
AKR1D111Dec 12, 2025
AKT14Apr 30, 2026
AKT27Apr 30, 2026
AKT36Dec 9, 2025
ALAS21Jan 26, 2024
ALB1Nov 14, 2023
ALDH18A115Apr 30, 2026
ALDH3A250Feb 3, 2026
ALDH4A18Sep 11, 2024
ALDH5A18May 23, 2025
ALDH6A11Jul 1, 2025
ALDH7A168Apr 30, 2026
ALDOB37Apr 30, 2026
ALG138Apr 30, 2026
ALG115Feb 3, 2026
ALG1212Feb 3, 2026
ALG1322Apr 30, 2026
ALG142Feb 3, 2026
ALG26Apr 30, 2026
ALG316Feb 3, 2026
ALG620Apr 30, 2026
ALG81Mar 14, 2025
ALK48Apr 30, 2026
ALKBH81Feb 14, 2025
ALMS1437May 1, 2026
ALOX12B43Feb 3, 2026
ALOXE321Apr 30, 2026
ALPI4Jul 1, 2025
ALPK152Apr 30, 2026
ALPK3143Apr 30, 2026
ALPL239Apr 30, 2026
ALS210Apr 30, 2026
ALX12Apr 3, 2024
ALX48Apr 30, 2026
AMACR9Apr 30, 2026
AMD11Mar 14, 2025
AMER120Apr 30, 2026
AMH14Apr 30, 2026
AMHR212Feb 3, 2026
AMOTL12Apr 30, 2026
AMPD113Apr 30, 2026
AMPD218Apr 30, 2026
AMT44Apr 30, 2026
ANAPC11May 2, 2025
ANG3Apr 30, 2026
ANGPT23Apr 30, 2026
ANK13May 23, 2025
ANK2209Apr 30, 2026
ANK320Apr 30, 2026
ANKH5Apr 30, 2026
ANKLE26Jun 16, 2025
ANKRD146Apr 30, 2026
ANKRD1196Apr 30, 2026
ANKRD1721Feb 3, 2026
ANKRD2623Apr 30, 2026
ANKRD312Dec 11, 2024
ANKS4B1Dec 9, 2025
ANO11Sep 11, 2024
ANO1015Apr 30, 2026
ANO33Nov 11, 2024
ANO551Apr 30, 2026
ANO635Apr 30, 2026
ANO81Jul 1, 2025
ANOS115Apr 30, 2026
ANTXR218Apr 30, 2026
ANXA112Apr 30, 2026
AOPEP68Apr 30, 2026
AP1G110Apr 30, 2026
AP1S11Jan 26, 2024
AP1S25Apr 30, 2026
AP2M13Jan 27, 2026
AP2S12Apr 30, 2026
AP3B158Apr 30, 2026
AP3B29Apr 30, 2026
AP3D116Apr 30, 2026
AP4B17Jan 27, 2026
AP4B1-AS111Apr 30, 2026
AP4E12Feb 14, 2025
AP4M15Jan 27, 2026
AP5Z120Feb 3, 2026
APBB12Sep 24, 2019
APC797Apr 30, 2026
APC216Feb 3, 2026
APIP1Dec 21, 2021
APOA129Apr 30, 2026
APOA1-AS22Apr 30, 2026
APOA214Oct 2, 2023
APOA529Apr 30, 2026
APOB88Apr 30, 2026
APOC312Feb 3, 2026
APOL11Jul 9, 2024
APOL24Feb 3, 2026
APOL44Feb 3, 2026
APP86Apr 30, 2026
APP-DT1Nov 14, 2023
APPL124Apr 30, 2026
APTX5Jul 1, 2025
AQP222Apr 30, 2026
AQP5-AS114Apr 30, 2026
AR33Apr 30, 2026
ARCN112Apr 30, 2026
ARF12Sep 11, 2024
ARFGEF114Apr 30, 2026
ARFGEF1-DT7Feb 3, 2026
ARFGEF22Jun 16, 2025
ARG122Feb 3, 2026
ARHGAP291Sep 10, 2024
ARHGAP3129Feb 3, 2026
ARHGAP41Apr 30, 2026
ARHGAP97Apr 30, 2026
ARHGDIA1May 23, 2025
ARHGEF123Apr 30, 2026
ARHGEF1059Apr 30, 2026
ARHGEF151Aug 8, 2024
ARHGEF23Jan 27, 2026
ARHGEF910Feb 3, 2026
ARID1A27Apr 30, 2026
ARID1B32Apr 30, 2026
ARID216Feb 3, 2026
ARID5A2Oct 27, 2023
ARL13B14May 23, 2025
ARL69Nov 11, 2024
ARMC55Feb 3, 2026
ARMC92Apr 3, 2024
ARPC44Apr 30, 2026
ARPC4-TTLL34Apr 30, 2026
ARR31Dec 12, 2025
ARSA157Apr 30, 2026
ARSB87Apr 30, 2026
ARSL7Apr 30, 2026
ARV11Dec 9, 2025
ARX31Apr 30, 2026
ASAH110Apr 30, 2026
ASB111Sep 9, 2020
ASB144May 23, 2025
ASCC11Jun 29, 2024
ASCC35Apr 30, 2026
ASH1L28Apr 30, 2026
ASIC4-AS14Jul 9, 2024
ASL94Apr 30, 2026
ASNS32Apr 30, 2026
ASPA62Apr 30, 2026
ASPH1Dec 21, 2021
ASPM31Apr 30, 2026
ASS197Apr 30, 2026
ASTN211Apr 30, 2026
ASXL134Apr 30, 2026
ASXL229Apr 30, 2026
ASXL316Feb 3, 2026
ATAD3A38Apr 30, 2026
ATAD3B3Nov 11, 2024
ATAD3C1Oct 23, 2024
ATG51Jun 24, 2025
ATG71Nov 11, 2024
ATG9B1Sep 10, 2024
ATIC3Feb 14, 2025
ATL17Apr 30, 2026
ATL38Apr 30, 2026
ATM1312May 1, 2026
ATN19Apr 30, 2026
ATP11A3Feb 3, 2026
ATP13A238Apr 30, 2026
ATP1A111Apr 30, 2026
ATP1A1-AS17Apr 30, 2026
ATP1A232Apr 30, 2026
ATP1A339Apr 30, 2026
ATP1B112Oct 2, 2023
ATP2A16Feb 3, 2026
ATP2A211Apr 30, 2026
ATP2B112Apr 30, 2026
ATP2B25Apr 30, 2026
ATP2B313Apr 30, 2026
ATP5F1A3Apr 30, 2026
ATP5F1B2May 23, 2025
ATP5MK1Oct 6, 2020
ATP6AP112Feb 3, 2026
ATP6AP210Apr 30, 2026
ATP6V0A12May 23, 2025
ATP6V0A223Apr 30, 2026
ATP6V0A418Feb 3, 2026
ATP6V1A8Apr 30, 2026
ATP6V1B119Apr 30, 2026
ATP6V1B1-AS13Apr 30, 2026
ATP6V1B27Apr 30, 2026
ATP6V1E14Apr 30, 2026
ATP7A50Apr 30, 2026
ATP7B453Apr 30, 2026
ATP8A26Sep 11, 2024
ATP8B153Apr 30, 2026
ATP8B1-AS114Feb 3, 2026
ATPAF21Feb 14, 2025
ATR25Jan 27, 2026
ATRIP41Apr 30, 2026
ATRIP-TREX141Apr 30, 2026
ATRX64Apr 30, 2026
ATXN71Jan 26, 2024
ATXN7L3-AS121Apr 30, 2026
AUH5Dec 9, 2025
AUTS239Apr 30, 2026
AVEN1Nov 14, 2023
AVIL1Dec 31, 2020
AVPR233Dec 12, 2025
AXDND117Apr 30, 2026
AXIN11Apr 30, 2026
AXIN269Apr 30, 2026
AXL7Apr 30, 2026
B2M2Feb 3, 2026
B3GALNT27Jul 1, 2025
B3GALT678Apr 30, 2026
B3GAT31Jul 1, 2025
B3GLCT11Apr 30, 2026
B4GALNT11Jul 25, 2023
B4GALT13Feb 14, 2025
B4GALT774Apr 30, 2026
B9D110Apr 30, 2026
B9D29Jul 1, 2025
BAAT1Feb 19, 2024
BACH21Jan 26, 2024
BAG383Apr 30, 2026
BAP14Feb 3, 2026
BARD1272Apr 30, 2026
BAZ2B2Jan 27, 2026
BBOF11Jul 1, 2025
BBS144Apr 30, 2026
BBS1051Apr 30, 2026
BBS1226Apr 30, 2026
BBS255Feb 3, 2026
BBS424Apr 30, 2026
BBS59Dec 12, 2025
BBS720Apr 30, 2026
BBS922Apr 30, 2026
BCAP316Feb 3, 2026
BCHE37Apr 30, 2026
BCKDHA44Apr 30, 2026
BCKDHB65Apr 30, 2026
BCL106Apr 30, 2026
BCL11A8Feb 3, 2026
BCL11B24Apr 30, 2026
BCL2L2-PABPN12Feb 3, 2026
BCOR10Apr 30, 2026
BCORL114May 1, 2026
BCS1L30Apr 30, 2026
BEAN13Dec 12, 2025
BEST11May 17, 2023
BGN32Apr 30, 2026
BICD229Apr 30, 2026
BICRA17Feb 3, 2026
BIVM-ERCC542Apr 30, 2026
BLK6Jun 13, 2025
BLK-AS15Jun 13, 2025
BLM144Apr 30, 2026
BLNK14Apr 30, 2026
BLOC1S11Jul 1, 2025
BLOC1S1-RDH513Apr 30, 2026
BLOC1S315Apr 9, 2026
BLOC1S612Apr 30, 2026
BLTP18Apr 30, 2026
BMP146Apr 30, 2026
BMP21Apr 30, 2026
BMP42Feb 3, 2026
BMPER3Dec 26, 2023
BMPR1A103Apr 30, 2026
BMPR22Oct 28, 2025
BNAT11Nov 14, 2023
BOLA21Feb 3, 2026
BOLA31Aug 25, 2023
BPNT21Feb 3, 2026
BPTF18Apr 30, 2026
BRAF149Apr 30, 2026
BRAT118Apr 30, 2026
BRCA11824Apr 30, 2026
BRCA23179Apr 30, 2026
BRD410Feb 3, 2026
BRF11Apr 30, 2026
BRIP1364Apr 30, 2026
BRPF112Apr 30, 2026
BRRIAR1Apr 30, 2026
BRSK22Dec 9, 2025
BRWD39Jul 1, 2025
BSCL228Apr 30, 2026
BSND19Apr 30, 2026
BTD125Apr 30, 2026
BTK75Apr 30, 2026
BTNL21Dec 12, 2025
BUB12Feb 3, 2026
BUB1B11May 23, 2025
BUB1B-PAK61May 23, 2025
C10orf10517Apr 30, 2026
C10orf5523Apr 30, 2026
C11orf65490May 1, 2026
C12orf437Feb 3, 2026
C12orf5722Apr 30, 2026
C12orf601Sep 11, 2024
C16orf894Apr 30, 2026
C17orf10728Apr 30, 2026
C19orf1216Apr 30, 2026
C1QA4Feb 3, 2026
C1QB6Apr 30, 2026
C1QC6Apr 30, 2026
C1QTNF3-AMACR9Apr 30, 2026
C1R78Apr 30, 2026
C1S98Apr 30, 2026
C222Apr 30, 2026
C2-AS12Feb 3, 2026
C2CD315Apr 30, 2026
C2orf6910Apr 30, 2026
C388Apr 30, 2026
C556Apr 30, 2026
C5orf582Feb 3, 2026
C622Apr 30, 2026
C718Apr 30, 2026
C8A28Apr 30, 2026
C8B19Apr 30, 2026
C918Apr 30, 2026
CA21Jan 26, 2024
CA5A3Aug 8, 2024
CABP41Jun 29, 2024
CACNA1A153Apr 30, 2026
CACNA1B14Jun 16, 2025
CACNA1C139Apr 30, 2026
CACNA1C-AS152Apr 30, 2026
CACNA1C-AS23Jun 16, 2025
CACNA1D90Apr 30, 2026
CACNA1E14Apr 30, 2026
CACNA1G84Apr 30, 2026
CACNA1G-AS13Feb 3, 2026
CACNA1H121Apr 30, 2026
CACNA1I15Apr 30, 2026
CACNA1S75Apr 30, 2026
CACNA2D12Oct 23, 2024
CACNA2D29Apr 30, 2026
CACNA2D42Oct 28, 2025
CACNB249Apr 30, 2026
CACNB47Jan 27, 2026
CACNG24Apr 30, 2026
CACNG2-DT1Dec 26, 2023
CAD52Apr 30, 2026
CADM39Apr 30, 2026
CADM3-AS12Apr 30, 2026
CALCR1Jul 7, 2021
CALM14Oct 28, 2025
CALM26Feb 3, 2026
CALM311Apr 30, 2026
CALR333Apr 30, 2026
CAMK2A21Apr 30, 2026
CAMK2B18Apr 30, 2026
CAMK2G2Aug 8, 2024
CAMK41Jul 1, 2020
CAMTA119Apr 30, 2026
CANT17Feb 3, 2026
CAPN18Apr 30, 2026
CAPN3156Apr 30, 2026
CAPRIN11Dec 26, 2023
CARD1145Apr 30, 2026
CARD11-AS13Apr 30, 2026
CARD1479Apr 30, 2026
CARS11Oct 27, 2023
CARS215Apr 30, 2026
CASD114Feb 3, 2026
CASK16Apr 30, 2026
CASK-AS11Feb 3, 2026
CASP102Jan 27, 2026
CASP147Apr 14, 2023
CASP89Apr 30, 2026
CASQ18Jul 1, 2025
CASQ242Apr 30, 2026
CASR255Apr 30, 2026
CAT1Dec 26, 2023
CATIP-AS216Apr 30, 2026
CAV12Apr 30, 2026
CAV340Apr 30, 2026
CAVIN12Feb 14, 2025
CBL165Apr 30, 2026
CBLIF1Jul 1, 2025
CBS186Apr 30, 2026
CC2D1A11Apr 30, 2026
CC2D2A51Apr 30, 2026
CCBE16Apr 30, 2026
CCDC1071Mar 6, 2020
CCDC1401Jul 1, 2025
CCDC14110Apr 30, 2026
CCDC1741Feb 3, 2026
CCDC224May 2, 2025
CCDC321Apr 30, 2026
CCDC394Apr 30, 2026
CCDC402Mar 6, 2020
CCDC505Dec 12, 2025
CCDC785Apr 30, 2026
CCDC829Apr 30, 2026
CCDC822Jan 27, 2026
CCDC85C5Dec 9, 2025
CCDC88A6Apr 30, 2026
CCDC88C60Apr 30, 2026
CCDST12Apr 30, 2026
CCM210Apr 30, 2026
CCN618Apr 30, 2026
CCND11Oct 2, 2023
CCND22Apr 30, 2026
CCNF1Dec 11, 2024
CCNH2Jun 24, 2025
CCNK7Dec 9, 2025
CCPG11Nov 14, 2023
CD1643Aug 8, 2024
CD197Apr 30, 2026
CD24710Feb 3, 2026
CD272Mar 14, 2025
CD27-AS12Mar 14, 2025
CD2AP2Apr 30, 2026
CD3623Apr 30, 2026
CD3D7Apr 30, 2026
CD3E20Apr 30, 2026
CD3G11Apr 30, 2026
CD4014Apr 30, 2026
CD40LG13Apr 30, 2026
CD4620Apr 30, 2026
CD557Apr 30, 2026
CD598Apr 30, 2026
CD635Apr 30, 2026
CD702Oct 28, 2025
CD79A1Apr 30, 2026
CD79B3Feb 3, 2026
CD8111Apr 30, 2026
CD81-AS11Feb 3, 2026
CD8A18Apr 30, 2026
CD9621Apr 30, 2026
CDAN112Feb 3, 2026
CDC14A2Jul 9, 2024
CDC429Apr 30, 2026
CDC42BPB18Apr 30, 2026
CDC451Oct 28, 2025
CDC7313Dec 9, 2025
CDCA73Oct 28, 2025
CDCA7L2Apr 30, 2026
CDH1323Apr 30, 2026
CDH111Apr 30, 2026
CDH1518Apr 30, 2026
CDH23May 23, 2025
CDH23204Apr 30, 2026
CDH23-AS18Feb 3, 2026
CDHR11Oct 28, 2025
CDHR31Apr 14, 2023
CDK101May 23, 2025
CDK1321Apr 30, 2026
CDK192Mar 14, 2025
CDK202Nov 11, 2024
CDK467Feb 3, 2026
CDK52Apr 30, 2026
CDK5RAP11Mar 6, 2020
CDK5RAP29May 23, 2025
CDKL546Apr 30, 2026
CDKN1C2Dec 9, 2025
CDKN2A80Apr 30, 2026
CDKN2A-AS12Mar 16, 2023
CDON10Apr 30, 2026
CDT13Jan 26, 2024
CEACAM165Apr 30, 2026
CEACAM16-AS15Apr 30, 2026
CEBPE15Apr 30, 2026
CEL2Nov 14, 2023
CELA2A1Feb 3, 2026
CELF22Mar 14, 2025
CENPE16Apr 30, 2026
CENPF14Feb 3, 2026
CENPT2Oct 23, 2024
CENPU1Mar 14, 2025
CEP10429Apr 30, 2026
CEP1205Jan 27, 2026
CEP1284Dec 11, 2024
CEP15211Feb 3, 2026
CEP16419Apr 30, 2026
CEP290107Apr 30, 2026
CEP553May 23, 2025
CEP638Feb 3, 2026
CEP781Jan 27, 2026
CEP85L10Apr 30, 2026
CERKL23Apr 30, 2026
CERS114Apr 30, 2026
CERS39Dec 9, 2025
CERS3-AS11Jan 6, 2022
CERT125Apr 30, 2026
CFAP4181May 17, 2023
CFAP9213Dec 9, 2025
CFAP961Feb 14, 2025
CFB34Apr 30, 2026
CFC11Mar 16, 2023
CFD11Apr 30, 2026
CFH103Apr 30, 2026
CFHR117Apr 30, 2026
CFHR223Apr 30, 2026
CFHR316Jan 27, 2026
CFHR453Apr 30, 2026
CFHR536Apr 30, 2026
CFI43Apr 30, 2026
CFP8Apr 30, 2026
CFTR1632May 1, 2026
CFTR-AS1152Apr 30, 2026
CFTR-AS2344Apr 30, 2026
CHAMP116Dec 12, 2025
CHAT39Apr 30, 2026
CHCHD1012Apr 30, 2026
CHCHD22Jun 21, 2023
CHD142Apr 30, 2026
CHD227Apr 30, 2026
CHD323Apr 30, 2026
CHD421Apr 30, 2026
CHD4-AS17Apr 30, 2026
CHD531Apr 30, 2026
CHD789Apr 30, 2026
CHD837Feb 3, 2026
CHEK13Jan 25, 2018
CHEK2278May 1, 2026
CHI3L11May 23, 2025
CHKB2Jul 9, 2024
CHKB-CPT1B2Jul 9, 2024
CHL11Oct 27, 2023
CHM3Apr 30, 2026
CHMP1A7Nov 11, 2024
CHMP2B7Apr 30, 2026
CHPT13Feb 26, 2021
CHRM31May 2, 2025
CHRNA116Apr 30, 2026
CHRNA221Apr 30, 2026
CHRNA432Apr 30, 2026
CHRNA72Apr 3, 2024
CHRNB18Apr 30, 2026
CHRNB210Apr 30, 2026
CHRND6Apr 30, 2026
CHRNE44Apr 30, 2026
CHRNG19Apr 30, 2026
CHROMR1Apr 30, 2026
CHST1441Apr 30, 2026
CHST32Jan 26, 2024
CHST643Apr 30, 2026
CHUK12Apr 30, 2026
CIAO11Jul 29, 2022
CIB26Apr 30, 2026
CIC73Apr 30, 2026
CIITA41Apr 30, 2026
CILK117Apr 30, 2026
CISD21Jul 25, 2023
CISD31May 23, 2025
CIT10Feb 3, 2026
CITED23Dec 12, 2025
CIZ11Dec 9, 2025
CKAP2L2Mar 14, 2025
CLASP14Jun 29, 2024
CLASP1-AS14Jun 29, 2024
CLCF112Apr 30, 2026
CLCN1122Apr 30, 2026
CLCN234Apr 30, 2026
CLCN33Dec 12, 2025
CLCN411Apr 30, 2026
CLCN520Apr 30, 2026
CLCN66Dec 12, 2025
CLCN78Apr 30, 2026
CLCNKA11Apr 30, 2026
CLCNKB23Apr 30, 2026
CLDN143Oct 28, 2025
CLDN14-AS11Jul 29, 2022
CLDN161Oct 28, 2025
CLIC26Feb 3, 2026
CLIC54Apr 30, 2026
CLN349Feb 3, 2026
CLN533Apr 30, 2026
CLN637Apr 9, 2026
CLN830Apr 30, 2026
CLP12Jul 1, 2025
CLPB30Apr 30, 2026
CLPP1Dec 26, 2023
CLRN121Apr 30, 2026
CLRN1-AS12Dec 9, 2025
CLTC15Apr 30, 2026
CNGA19Feb 3, 2026
CNGA344Apr 30, 2026
CNGB125Jan 27, 2026
CNGB330Apr 30, 2026
CNKSR27Apr 30, 2026
CNNM217Apr 30, 2026
CNOT116Apr 30, 2026
CNOT26Jan 27, 2026
CNOT37Jun 24, 2025
CNP2Jun 24, 2025
CNPY32Jul 9, 2024
CNPY3-GNMT2Jul 9, 2024
CNTN27Feb 3, 2026
CNTN41Feb 3, 2026
CNTN61Sep 14, 2022
CNTNAP130Apr 30, 2026
CNTNAP253Apr 30, 2026
CNTNAP51Nov 10, 2020
COA77Apr 30, 2026
COA81Jul 1, 2025
COASY9Jun 24, 2025
COBL1May 13, 2020
COCH8Feb 3, 2026
COCH-AS17Feb 3, 2026
COG26Feb 3, 2026
COG47Feb 3, 2026
COG59Dec 11, 2024
COG63Dec 12, 2025
COG77Jul 1, 2025
COG82Nov 11, 2024
COL10A122Apr 30, 2026
COL11A195Apr 30, 2026
COL11A2116Apr 30, 2026
COL12A1396Apr 30, 2026
COL13A13Jan 27, 2026
COL17A140Apr 30, 2026
COL18A168Apr 30, 2026
COL1A1333Apr 30, 2026
COL1A2259Apr 30, 2026
COL1A2-AS12Apr 30, 2026
COL27A160Feb 3, 2026
COL2A150Apr 30, 2026
COL3A1318Apr 30, 2026
COL4A180Apr 30, 2026
COL4A276Apr 30, 2026
COL4A2-AS111Apr 30, 2026
COL4A2-AS210Jan 27, 2026
COL4A3225Apr 30, 2026
COL4A4182Apr 30, 2026
COL4A5111Apr 30, 2026
COL4A615Apr 30, 2026
COL5A1555Apr 30, 2026
COL5A2280May 1, 2026
COL6A150Apr 30, 2026
COL6A273Apr 30, 2026
COL6A398Apr 30, 2026
COL7A1370Apr 30, 2026
COL8A21Sep 14, 2022
COL9A147Apr 30, 2026
COL9A240Apr 30, 2026
COL9A359Apr 30, 2026
COLEC112May 23, 2025
COLGALT11Nov 14, 2023
COLQ24Apr 30, 2026
COMP12Apr 30, 2026
COPA36Apr 30, 2026
COPB21Apr 30, 2026
COPG120Apr 30, 2026
COQ217Apr 30, 2026
COQ49Apr 30, 2026
COQ51Feb 3, 2026
COQ61Sep 11, 2024
COQ72Nov 11, 2024
COQ8A10Jan 27, 2026
COQ8B1Feb 19, 2024
COQ96Dec 9, 2025
CORO1A17Apr 30, 2026
COX1012Apr 30, 2026
COX141Apr 30, 2026
COX1515Feb 3, 2026
COX203Apr 30, 2026
COX6A16Apr 30, 2026
COX6A21Feb 14, 2025
CP37Feb 3, 2026
CPA614Feb 3, 2026
CPAMD81Aug 8, 2024
CPAP3Feb 3, 2026
CPE2Aug 8, 2024
CPEB1-AS19Apr 30, 2026
CPLANE176Apr 30, 2026
CPNE11Oct 28, 2025
CPOX4Apr 30, 2026
CPS1116Apr 30, 2026
CPSF12Sep 10, 2024
CPT1A32Apr 30, 2026
CPT1C23Apr 30, 2026
CPT275Apr 30, 2026
CPZ1Jul 1, 2025
CR225Apr 30, 2026
CRADD4Feb 3, 2026
CRAT2Jun 29, 2024
CRB176Apr 30, 2026
CRB229Apr 30, 2026
CRBN1Mar 6, 2020
CREB3L114Apr 30, 2026
CREB3L32Dec 11, 2024
CREBBP75Apr 30, 2026
CRELD11Dec 26, 2023
CRIPT2Jun 24, 2025
CRLF123Apr 30, 2026
CRMP11Feb 3, 2026
CRNKL11Apr 30, 2026
CRPPA6Feb 3, 2026
CRPPA-AS11Feb 3, 2026
CRTAP16Apr 30, 2026
CRYAB19Apr 30, 2026
CRYBA41Oct 6, 2020
CRYBB11Oct 6, 2020
CRYBB21Sep 11, 2024
CRYGD1Apr 30, 2026
CRYM1Aug 8, 2024
CSDE11Apr 19, 2022
CSF1R16Apr 30, 2026
CSF2RA2Mar 6, 2020
CSF3R25Apr 30, 2026
CSGALNACT11Apr 30, 2026
CSNK2A112Feb 3, 2026
CSNK2B3Sep 10, 2024
CSPP18Feb 3, 2026
CSRP324Apr 30, 2026
CSTB3Oct 28, 2025
CTBP12Feb 3, 2026
CTBP1-AS2Feb 3, 2026
CTC126Apr 30, 2026
CTCF10Jul 1, 2025
CTDP123Apr 30, 2026
CTF18Jun 21, 2023
CTLA41Oct 28, 2025
CTNNA24Jun 24, 2025
CTNNA346Apr 30, 2026
CTNNA3-AS12Feb 3, 2026
CTNNB110Feb 3, 2026
CTNNBL111Apr 30, 2026
CTNND11Mar 16, 2023
CTNS61Apr 30, 2026
CTNS-AS122Apr 30, 2026
CTPS16Feb 3, 2026
CTSA36Apr 30, 2026
CTSB1Dec 31, 2020
CTSC16Dec 12, 2025
CTSD14May 2, 2025
CTSF16Apr 30, 2026
CTSK16Feb 3, 2026
CTU22Dec 9, 2025
CTXN2-AS17Apr 30, 2026
CUBN17Apr 30, 2026
CUL39Feb 3, 2026
CUL4B8Oct 28, 2025
CUL775Apr 30, 2026
CUX117Apr 30, 2026
CUX215Jan 27, 2026
CWC273Feb 3, 2026
CWF19L13Jan 27, 2026
CXCR210Apr 30, 2026
CYB561D23Apr 30, 2026
CYB5R35Feb 3, 2026
CYBA32Apr 30, 2026
CYBB65Apr 30, 2026
CYBC13Apr 30, 2026
CYC11Sep 11, 2024
CYCS1Jun 29, 2024
CYFIP211Apr 30, 2026
CYGB3Apr 30, 2026
CYLD2Apr 30, 2026
CYLD-AS13Apr 30, 2026
CYLD-AS21May 23, 2025
CYP11A110Apr 30, 2026
CYP11B194Apr 30, 2026
CYP11B217Apr 30, 2026
CYP17A133Feb 3, 2026
CYP17A1-AS12Sep 14, 2022
CYP19A16Jan 27, 2026
CYP1B186Apr 30, 2026
CYP21A283Apr 30, 2026
CYP24A110Jan 27, 2026
CYP26B11Nov 11, 2024
CYP27A151Apr 30, 2026
CYP27B127Feb 3, 2026
CYP2D64Feb 3, 2026
CYP2R113Apr 30, 2026
CYP2U12Mar 14, 2025
CYP2U1-AS11Oct 13, 2022
CYP4F2225Apr 30, 2026
CYP4V22Feb 3, 2026
CYP51A11Mar 6, 2020
CYP7B120Apr 30, 2026
CZ1P-ASNS32Apr 30, 2026
D2HGDH9Apr 30, 2026
DAB14Apr 30, 2026
DACT12Dec 9, 2025
DAG18Apr 30, 2026
DALRD32Jan 27, 2026
DAP31Dec 12, 2025
DARS26Apr 30, 2026
DBH1Jan 26, 2024
DBNL4Dec 9, 2025
DBT38Apr 30, 2026
DCAF177May 23, 2025
DCAF61Feb 14, 2025
DCAF815Apr 30, 2026
DCC13Apr 30, 2026
DCHS145Apr 30, 2026
DCLRE1B1Mar 6, 2020
DCLRE1C37Apr 30, 2026
DCPS8Apr 30, 2026
DCT1Jun 29, 2024
DCTN145Apr 30, 2026
DCTN51Mar 6, 2020
DCX10Apr 30, 2026
DDB15Apr 30, 2026
DDB24Feb 3, 2026
DDC44Apr 30, 2026
DDC-AS116Apr 30, 2026
DDHD11Feb 3, 2026
DDHD22Jul 25, 2023
DDR27Feb 3, 2026
DDRGK11May 23, 2025
DDX1144Apr 30, 2026
DDX3X19Apr 30, 2026
DDX411Sep 10, 2024
DDX591Feb 3, 2026
DDX66Apr 30, 2026
DEAF110Apr 30, 2026
DENND5A1Jan 11, 2023
DEPDC546Apr 30, 2026
DES80Apr 30, 2026
DES-LCR1Nov 10, 2020
DGAT13Apr 30, 2026
DGAT211Apr 30, 2026
DGCR61Dec 12, 2025
DGKE13Jan 27, 2026
DGUOK17Apr 30, 2026
DGUOK-AS14Mar 14, 2025
DHCR2411Apr 30, 2026
DHCR7129Apr 30, 2026
DHDDS12Jun 24, 2025
DHFR2Jun 29, 2024
DHODH1Aug 25, 2023
DHPS1Jun 29, 2024
DHTKD140Apr 30, 2026
DHX167Apr 30, 2026
DHX3011Apr 30, 2026
DHX372Jun 29, 2024
DIABLO5Feb 3, 2026
DIAPH111Apr 30, 2026
DIAPH318Apr 30, 2026
DIAPH3-AS13Feb 3, 2026
DICER13Nov 11, 2024
DIP2B32Apr 30, 2026
DIS3L22Mar 14, 2025
DISP13Apr 30, 2026
DKC13Dec 9, 2025
DLAT10Feb 3, 2026
DLD17Apr 30, 2026
DLG310Apr 30, 2026
DLG411Apr 30, 2026
DLGAP21Feb 3, 2026
DLGAP2-AS11Feb 3, 2026
DLL110Apr 30, 2026
DLL34Jun 16, 2025
DLL42Apr 30, 2026
DLX54Apr 30, 2026
DMAC2L1Jul 25, 2023
DMD593Apr 30, 2026
DMGDH1Feb 3, 2026
DMP117Apr 30, 2026
DMP1-AS139Apr 30, 2026
DMPK2Feb 3, 2026
DMXL237Apr 30, 2026
DNA223Dec 12, 2025
DNAAF191Jun 29, 2024
DNAAF34Dec 9, 2025
DNAAF3-AS12Dec 9, 2025
DNAAF41Dec 11, 2024
DNAAF4-CCPG11Nov 14, 2023
DNAH11Sep 10, 2024
DNAH1140Apr 30, 2026
DNAH144Apr 30, 2026
DNAH533Apr 30, 2026
DNAH5-AS19Apr 30, 2026
DNAH72Mar 6, 2020
DNAH91Oct 13, 2022
DNAI15Feb 3, 2026
DNAI23Jul 1, 2025
DNAJB26Apr 30, 2026
DNAJB65Apr 30, 2026
DNAJC123Mar 14, 2025
DNAJC1911Feb 3, 2026
DNAJC2114Apr 30, 2026
DNAJC31Mar 14, 2025
DNAJC57Apr 30, 2026
DNAJC61May 23, 2025
DNAJC91Dec 9, 2025
DNAJC9-AS11Mar 14, 2025
DNASE14Mar 14, 2025
DNASE1L11Aug 18, 2011
DNASE1L320Apr 30, 2026
DNASE27Apr 30, 2026
DNM126Apr 30, 2026
DNM1L13Apr 30, 2026
DNM226Apr 30, 2026
DNMT154Apr 30, 2026
DNMT3A4Jan 27, 2026
DNMT3B24Apr 30, 2026
DOCK245Apr 30, 2026
DOCK37Apr 30, 2026
DOCK624Apr 30, 2026
DOCK6-AS16Apr 30, 2026
DOCK726Apr 30, 2026
DOCK8139May 1, 2026
DOCK8-AS14Feb 3, 2026
DOHH3May 2, 2025
DOK749Apr 30, 2026
DOLK28Apr 30, 2026
DONSON7Apr 30, 2026
DOP1A8Feb 3, 2026
DOT1L3Apr 30, 2026
DPAGT12Mar 16, 2023
DPF23Feb 3, 2026
DPH16Apr 30, 2026
DPM13Feb 3, 2026
DPM22Aug 25, 2023
DPP69May 1, 2026
DPYD88Apr 30, 2026
DPYD-AS111Jan 27, 2026
DPYS10Feb 3, 2026
DPYSL59Apr 30, 2026
DRD21Oct 2, 2023
DRD43May 23, 2025
DRD52Jan 27, 2026
DRP216Apr 30, 2026
DSC2118Apr 30, 2026
DSCAS1Sep 9, 2020
DSE108Apr 30, 2026
DSG2123Apr 30, 2026
DSG2-AS143Apr 30, 2026
DSP316Apr 30, 2026
DSP-AS110Apr 30, 2026
DSPP22Apr 30, 2026
DST47Apr 30, 2026
DST-AS11Jan 26, 2024
DSTYK2Feb 3, 2026
DTNA58Apr 30, 2026
DTNA-AS16Feb 3, 2026
DTNBP128Apr 30, 2026
DTYMK1Apr 30, 2026
DUOX289Apr 30, 2026
DUOXA12Sep 11, 2024
DUOXA217Feb 3, 2026
DUS4L1Dec 11, 2024
DUS4L-BCAP291Dec 11, 2024
DUSP295Feb 3, 2026
DUSP62Dec 9, 2025
DVL114Apr 30, 2026
DVL37Apr 30, 2026
DYM2Dec 9, 2025
DYNC1H1143Apr 30, 2026
DYNC1I23Aug 8, 2024
DYNC2H1128May 1, 2026
DYNC2I11Sep 10, 2024
DYNC2I210Apr 30, 2026
DYNC2LI136Apr 30, 2026
DYRK1A19Apr 30, 2026
DYSF153Apr 30, 2026
EARS28Dec 11, 2024
EBF312Apr 30, 2026
EBP1Feb 3, 2026
ECE112Apr 30, 2026
ECEL11Dec 11, 2024
ECHS17Dec 9, 2025
ECM11Feb 3, 2026
EDA21Feb 3, 2026
EDC31Jan 26, 2024
EDN33Apr 30, 2026
EDNRA1Dec 26, 2023
EDNRB7Apr 30, 2026
EDNRB-AS14Apr 30, 2026
EED2Feb 3, 2026
EEF1A216Feb 3, 2026
EEF29May 23, 2025
EEF2KMT6Apr 30, 2026
EFCAB131Feb 3, 2026
EFCAB13-DT3Feb 3, 2026
EFEMP268Apr 30, 2026
EFHC110Apr 30, 2026
EFL122Apr 30, 2026
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EFTUD213Apr 30, 2026
EGF3May 23, 2025
EGFR3Dec 9, 2025
EGILA3Apr 30, 2026
EGR216Apr 30, 2026
EHHADH2Feb 19, 2024
EHMT146Apr 30, 2026
EHMT2-AS11Feb 19, 2024
EIF2AK17Jun 24, 2025
EIF2AK21Feb 3, 2026
EIF2AK37Dec 9, 2025
EIF2AK3-AS16Dec 9, 2025
EIF2B110Apr 30, 2026
EIF2B221Feb 3, 2026
EIF2B323Feb 3, 2026
EIF2B416Feb 3, 2026
EIF2B538Apr 30, 2026
EIF3F2Oct 2, 2023
EIF4A21Dec 11, 2024
EIF4G15Apr 30, 2026
EIF5A1Feb 3, 2026
ELAC25Apr 30, 2026
ELANE15Apr 30, 2026
ELF418Apr 30, 2026
ELMO21Dec 9, 2025
ELMOD35Apr 30, 2026
ELN26Apr 30, 2026
ELN-AS14Oct 23, 2024
ELOVL47Jun 16, 2025
ELOVL57Apr 30, 2026
ELP164Apr 30, 2026
ELP25Apr 30, 2026
ELP41Jul 1, 2025
EMC110Apr 30, 2026
EMC1-AS17Apr 30, 2026
EMC102Feb 3, 2026
EMD30Apr 30, 2026
EME21Jun 28, 2024
EMILIN14Apr 30, 2026
EML11Jul 1, 2025
ENAM2Jun 24, 2025
ENG29Apr 30, 2026
ENO33Dec 9, 2025
ENPP127Apr 30, 2026
ENTPD12Feb 3, 2026
ENTPD1-AS12Feb 3, 2026
ENTPD51Sep 11, 2024
ENTREP21Jul 9, 2024
EP30024Apr 30, 2026
EP4001Feb 9, 2021
EPB41L17Apr 30, 2026
EPB425Apr 30, 2026
EPCAM18Feb 3, 2026
EPG534Apr 30, 2026
EPHA31Feb 26, 2021
EPHB11Feb 3, 2026
EPHB48Apr 30, 2026
EPM2A1Jan 27, 2026
EPOR4Apr 30, 2026
EPRS14Oct 28, 2025
EPS8L25Feb 14, 2025
ERBB37Feb 3, 2026
ERBB421Apr 30, 2026
ERCC269Apr 30, 2026
ERCC316Apr 30, 2026
ERCC422Apr 9, 2026
ERCC543Apr 30, 2026
ERCC661Dec 9, 2025
ERCC6L24Jan 27, 2026
ERCC823Apr 30, 2026
ERCC8-AS12Dec 11, 2024
ERF4Mar 14, 2025
ERICD1Apr 30, 2026
ERLIN21Apr 30, 2026
ERMARD6Feb 3, 2026
ESCO24Apr 30, 2026
ESPN3Feb 3, 2026
ESR12Apr 30, 2026
ESRRB3Feb 3, 2026
ETFA16Apr 30, 2026
ETFB14Dec 12, 2025
ETFDH83Apr 30, 2026
ETHE124Jul 1, 2025
ETV67Feb 3, 2026
EVC93Apr 30, 2026
EVC232Apr 30, 2026
EXOC24Apr 30, 2026
EXOC81May 23, 2025
EXOSC21Dec 11, 2024
EXOSC318Feb 3, 2026
EXOSC81Jun 16, 2025
EXOSC92Dec 11, 2024
EXT15Feb 3, 2026
EXT26Apr 30, 2026
EYA17Apr 30, 2026
EYA454May 1, 2026
EYA4-AS22Jun 13, 2025
EYS191Apr 30, 2026
EZH21Jul 9, 2024
F101Apr 30, 2026
F1150Apr 30, 2026
F11-AS113Jan 27, 2026
F121Jan 26, 2024
F13A124Apr 30, 2026
F13B8Apr 30, 2026
F214Apr 30, 2026
F518Apr 30, 2026
F745Apr 30, 2026
F8228Apr 30, 2026
F995Apr 30, 2026
FA2H28Apr 30, 2026
FADD5Feb 3, 2026
FAH48Feb 3, 2026
FAM111A10Apr 30, 2026
FAM111B1Nov 16, 2021
FAM149B15Jan 27, 2026
FAM161A17Feb 3, 2026
FAM20A9Feb 3, 2026
FAM20C3Apr 30, 2026
FAM50A1Sep 10, 2024
FAN11Jul 25, 2023
FANCA127Apr 30, 2026
FANCB7Feb 3, 2026
FANCC102Apr 30, 2026
FANCD254Apr 30, 2026
FANCD2OS11Apr 30, 2026
FANCE11Feb 3, 2026
FANCF14May 23, 2025
FANCG15Apr 30, 2026
FANCI34Apr 30, 2026
FANCL15Feb 3, 2026
FAR17Apr 9, 2026
FARS211Apr 30, 2026
FAS14Apr 30, 2026
FASLG4Feb 3, 2026
FASN1Nov 14, 2023
FASTKD24Jun 13, 2025
FASTKD32Dec 12, 2025
FAT269Apr 30, 2026
FAT449Apr 30, 2026
FBLIM11Oct 13, 2022
FBLN11Sep 10, 2024
FBLN510Apr 30, 2026
FBN1940Apr 30, 2026
FBN2258Apr 30, 2026
FBN31Dec 11, 2024
FBP113Apr 30, 2026
FBP22Apr 30, 2026
FBXL324Apr 30, 2026
FBXL419Apr 30, 2026
FBXL547Apr 30, 2026
FBXO1120Oct 28, 2025
FBXO282Feb 3, 2026
FBXO312Jan 27, 2026
FBXO3818Apr 30, 2026
FBXO73Jul 1, 2025
FBXW115Apr 30, 2026
FBXW77Apr 30, 2026
FCGR2A6Apr 30, 2026
FCGR2B2Jun 16, 2025
FCGR3B3Apr 30, 2026
FCHO132Apr 30, 2026
FCN31Aug 25, 2023
FCSK13Apr 30, 2026
FDFT13Jan 26, 2024
FDXR3Feb 3, 2026
FECH5Sep 10, 2024
FERMT338Apr 30, 2026
FEZF14Feb 3, 2026
FEZF1-AS12May 23, 2025
FGA44Apr 30, 2026
FGB36Apr 30, 2026
FGD115Apr 30, 2026
FGD412Apr 30, 2026
FGF104Jan 27, 2026
FGF124Apr 30, 2026
FGF133Jun 24, 2025
FGF142Jul 9, 2024
FGF171Jul 1, 2025
FGF2318Apr 30, 2026
FGF32Dec 26, 2023
FGF86Feb 3, 2026
FGFR154Apr 30, 2026
FGFR222Apr 30, 2026
FGFR386Apr 30, 2026
FGG42Apr 30, 2026
FH46Apr 30, 2026
FHL125Apr 30, 2026
FHOD32May 23, 2025
FIG431Apr 30, 2026
FITM22Jun 24, 2025
FKBP1030Apr 30, 2026
FKBP1428Apr 30, 2026
FKBP14-AS128Apr 30, 2026
FKRP85Apr 30, 2026
FKTN64Apr 30, 2026
FLAD14Aug 8, 2024
FLCN37Apr 30, 2026
FLG12Apr 30, 2026
FLI13May 23, 2025
FLNA256Apr 30, 2026
FLNB47Apr 30, 2026
FLNB-AS14Apr 30, 2026
FLNC341Apr 30, 2026
FLNC-AS1108Apr 30, 2026
FLRT310Apr 30, 2026
FLT49Apr 30, 2026
FLVCR19Apr 30, 2026
FMN217Apr 30, 2026
FMO335Apr 30, 2026
FMR14Nov 11, 2024
FN13Oct 23, 2024
FNIP120Apr 30, 2026
FOLR16Feb 3, 2026
FOLR1-AS16Feb 3, 2026
FOSL22Jun 16, 2025
FOSL2-AS11Jun 16, 2025
FOXC11May 23, 2025
FOXC24Feb 3, 2026
FOXC2-AS11Sep 10, 2024
FOXE15Feb 3, 2026
FOXE317Oct 2, 2023
FOXF11Oct 28, 2025
FOXG115Apr 30, 2026
FOXH110Apr 30, 2026
FOXI13Apr 30, 2026
FOXN113Jun 24, 2025
FOXP18Jun 16, 2025
FOXP27Jan 27, 2026
FOXP311Dec 12, 2025
FOXP41May 2, 2025
FOXRED122Apr 30, 2026
FPGT-TNNI3K1Apr 30, 2026
FRA10AC12Jun 16, 2025
FRAS173Apr 30, 2026
FREM13Apr 30, 2026
FREM235Apr 30, 2026
FRMD4A4May 23, 2025
FRMD53Sep 10, 2024
FRMD71Feb 19, 2024
FRMPD427Apr 30, 2026
FRRS1L2Feb 3, 2026
FRYL2Jan 27, 2026
FTCD5Jun 24, 2025
FTL11Feb 3, 2026
FTO2May 23, 2025
FTSJ11Jun 21, 2023
FUCA122Feb 3, 2026
FUS8Apr 30, 2026
FUT82Oct 28, 2025
FUZ2Nov 11, 2024
FXN6Feb 3, 2026
FXYD24Dec 12, 2025
FXYD6-FXYD24Dec 12, 2025
FYCO11Feb 19, 2024
FZR11Feb 19, 2024
G6PC148Apr 30, 2026
G6PC313Apr 30, 2026
G6PD58Apr 30, 2026
GAA334Apr 30, 2026
GABBR15Apr 30, 2026
GABBR210Apr 30, 2026
GABRA114Apr 30, 2026
GABRA21Feb 3, 2026
GABRA32Mar 14, 2025
GABRA57Oct 28, 2025
GABRB19Apr 30, 2026
GABRB22Feb 19, 2024
GABRB311Apr 30, 2026
GABRD18Apr 30, 2026
GABRG220Apr 30, 2026
GABRQ1Jul 25, 2023
GAD11Apr 14, 2023
GAL6Apr 30, 2026
GAL3ST41Nov 10, 2020
GALC134Apr 30, 2026
GALE29Apr 30, 2026
GALK126Apr 30, 2026
GALM1Sep 11, 2024
GALNS149Apr 30, 2026
GALNT121Jan 27, 2026
GALNT21Feb 3, 2026
GALNT32Dec 9, 2025
GALT222Apr 30, 2026
GAMT38Apr 30, 2026
GAN14Apr 30, 2026
GAREM232Feb 3, 2026
GARIN31Dec 9, 2025
GARIN5A1Dec 12, 2025
GARS124Apr 30, 2026
GAS2L21Dec 12, 2025
GATA15Jul 1, 2025
GATA28Apr 30, 2026
GATA38Apr 30, 2026
GATA48Jun 24, 2025
GATA53Oct 23, 2024
GATA611Dec 12, 2025
GATAD126Feb 3, 2026
GATAD2B7Dec 9, 2025
GATM8Apr 30, 2026
GBA1186Apr 30, 2026
GBA27Oct 28, 2025
GBE150Apr 30, 2026
GBF119Apr 30, 2026
GCDH146Apr 30, 2026
GCH128Apr 30, 2026
GCK306May 1, 2026
GCM214Apr 30, 2026
GCSH1Jan 27, 2026
GDAP138Apr 30, 2026
GDF114Apr 30, 2026
GDF111Feb 6, 2023
GDF56Feb 3, 2026
GDF5-AS15Feb 3, 2026
GDF68Apr 30, 2026
GDI110Apr 30, 2026
GDNF1Oct 23, 2024
GEMIN44Apr 30, 2026
GEMIN510Apr 9, 2026
GFAP26Apr 30, 2026
GFER3Dec 12, 2025
GFI124Apr 30, 2026
GFI1B13Feb 3, 2026
GFM129Apr 30, 2026
GFM23Feb 3, 2026
GFPT123Apr 30, 2026
GH-LCR67Apr 30, 2026
GH130Apr 30, 2026
GHR38Apr 30, 2026
GHRHR43Apr 30, 2026
GHSR25Apr 30, 2026
GIGYF23Dec 12, 2025
GIMAP1-GIMAP51Feb 19, 2024
GIMAP51Feb 19, 2024
GINS32Mar 6, 2020
GIPC31May 2, 2025
GJA113Apr 30, 2026
GJA56Apr 30, 2026
GJB132Apr 30, 2026
GJB2207Apr 30, 2026
GJB37Apr 30, 2026
GJB69Dec 12, 2025
GJC213Apr 30, 2026
GJD2-DT42Apr 30, 2026
GK6Apr 30, 2026
GK-AS11Feb 3, 2026
GLA229Apr 30, 2026
GLB1117Apr 30, 2026
GLDC130Apr 30, 2026
GLDN3Dec 12, 2025
GLE18Dec 12, 2025
GLI119May 1, 2026
GLI2108Apr 30, 2026
GLI36Jan 27, 2026
GLIS32Apr 3, 2024
GLRA115Apr 30, 2026
GLRA25Feb 3, 2026
GLRB2Dec 14, 2022
GLUD120Apr 30, 2026
GLUD21Apr 30, 2026
GLUL3Jul 1, 2025
GLYCTK4Jun 16, 2025
GML24Apr 30, 2026
GMNN4Oct 28, 2025
GMPPA2Oct 27, 2023
GMPPB8Oct 28, 2025
GNA1110Apr 30, 2026
GNAI13Sep 11, 2024
GNAI32Mar 14, 2025
GNAL2Aug 21, 2024
GNAO18Apr 30, 2026
GNAO1-AS11Apr 30, 2026
GNAQ3Oct 28, 2025
GNAS27Apr 30, 2026
GNAS-AS13Dec 12, 2025
GNB16May 2, 2025
GNB412Apr 30, 2026
GNB53Jun 16, 2025
GNE95Apr 30, 2026
GNG33Apr 30, 2026
GNPAT4Aug 25, 2023
GNPTAB89Apr 30, 2026
GNPTG19Apr 30, 2026
GNRHR11Jun 24, 2025
GNS8Jun 24, 2025
GORAB1Jul 29, 2022
GOSR23Apr 30, 2026
GP1BA71May 1, 2026
GP1BB22Apr 30, 2026
GP633Apr 30, 2026
GP918Apr 30, 2026
GPAA12Sep 10, 2024
GPC322Apr 30, 2026
GPC44Apr 30, 2026
GPD1L19Dec 12, 2025
GPHN51Apr 30, 2026
GPI2Sep 10, 2024
GPLD11Feb 19, 2024
GPNMB1Jun 24, 2025
GPR1011May 23, 2025
GPR1436Oct 28, 2025
GPR42Apr 30, 2026
GPR781Jul 1, 2025
GPSM21Nov 11, 2024
GPT25Apr 30, 2026
GRAP2Feb 14, 2025
GREB1L7May 2, 2025
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MED178Apr 30, 2026
MED2321Feb 3, 2026
MED2515Apr 30, 2026
MED271Aug 8, 2024
MEF2C7Dec 12, 2025
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MEFV203Apr 30, 2026
MEGF108Jan 27, 2026
MEGF827Jan 27, 2026
MEIS22Dec 12, 2025
MEN1134Apr 30, 2026
MERTK1Apr 30, 2026
MESP214Oct 28, 2025
MET39Apr 30, 2026
METTL51Apr 29, 2020
MFAP520Feb 3, 2026
MFF4Feb 3, 2026
MFF-DT216Apr 30, 2026
MFN235Apr 30, 2026
MFSD2A1Apr 30, 2026
MFSD820Apr 30, 2026
MGAT26Oct 28, 2025
MHRT44Feb 3, 2026
MIB12May 2, 2025
MICAL11Feb 19, 2024
MICU13Jul 9, 2024
MICU21Jun 13, 2025
MID112Feb 3, 2026
MID26May 2, 2025
MILR115Apr 30, 2026
MIPEP5Jun 16, 2025
MIR12254Apr 30, 2026
MIR302CHG5Feb 3, 2026
MIR31952Dec 12, 2025
MIR36061Jan 25, 2018
MIR3936HG4Sep 14, 2022
MIR43211Dec 11, 2024
MIR46492Apr 30, 2026
MIR46732Feb 3, 2026
MIR46851Jan 26, 2024
MIR4713HG6Jan 27, 2026
MIR4733HG3Jul 1, 2025
MIR6381Feb 3, 2026
MIR65051May 17, 2023
MIR6511B17Apr 30, 2026
MIR67951Mar 14, 2025
MIR68865Jan 27, 2026
MIR71081Sep 11, 2024
MIR7111Jul 25, 2023
MIR71141Feb 3, 2026
MITD14Apr 9, 2026
MITF15Apr 30, 2026
MKKS17Apr 30, 2026
MKRN32Dec 9, 2025
MKS124Apr 30, 2026
MLC133Apr 30, 2026
MLDHR24May 1, 2026
MLH1455Apr 30, 2026
MLYCD10Dec 9, 2025
MMAA24Apr 30, 2026
MMAB24Feb 3, 2026
MMACHC74Apr 30, 2026
MMADHC10Jan 27, 2026
MME39Apr 30, 2026
MMP137Feb 3, 2026
MMUT131Apr 30, 2026
MN18Apr 30, 2026
MNX11Nov 11, 2024
MOCOS1Jun 24, 2025
MOCS128Apr 30, 2026
MOCS29Dec 9, 2025
MOGS15Apr 30, 2026
MORC243Apr 30, 2026
MPDU13Feb 19, 2024
MPDU1-AS11Jan 26, 2024
MPDZ12Feb 3, 2026
MPG1Jul 9, 2024
MPI16Apr 30, 2026
MPIG6B1Jul 9, 2024
MPL44Feb 3, 2026
MPO3Dec 12, 2025
MPV1721Apr 30, 2026
MPZ22Apr 30, 2026
MPZL21Jul 29, 2022
MRAS31Apr 30, 2026
MRE1189Apr 30, 2026
MRNIP1Jul 9, 2024
MRPL362Apr 30, 2026
MRPL391Mar 14, 2025
MRPL443Jun 29, 2024
MRPS161Mar 14, 2025
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MRPS221Jan 26, 2024
MRPS281May 23, 2025
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MSC-AS112Apr 30, 2026
MSH2629Apr 30, 2026
MSH6861Apr 30, 2026
MSN12Apr 30, 2026
MSTO18Dec 12, 2025
MSX27Feb 3, 2026
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MTHFR48Apr 30, 2026
MTHFS1Oct 23, 2024
MTM120Apr 30, 2026
MTMR147Feb 3, 2026
MTMR215Apr 30, 2026
MTO16Jul 1, 2025
MTOR56Apr 30, 2026
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MTPAP1Jun 29, 2024
MTR19Apr 30, 2026
MTRFR5Apr 30, 2026
MTRR15Dec 12, 2025
MTSS210Feb 3, 2026
MTTP39Apr 30, 2026
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MUSK11Apr 30, 2026
MUTYH240Apr 30, 2026
MVK57Apr 30, 2026
MVP-DT22Apr 30, 2026
MYBPC13Dec 9, 2025
MYBPC3266Apr 30, 2026
MYCN7Apr 30, 2026
MYCNOS2May 2, 2025
MYF63Sep 11, 2024
MYH101May 23, 2025
MYH11269Apr 30, 2026
MYH14100Apr 30, 2026
MYH221Dec 12, 2025
MYH356Apr 30, 2026
MYH6245Apr 30, 2026
MYH7272Apr 30, 2026
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MYH83May 2, 2025
MYH989Apr 30, 2026
MYHAS22Dec 12, 2025
MYL111Sep 10, 2024
MYL242Apr 30, 2026
MYL327Apr 30, 2026
MYL41Oct 23, 2024
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MYLK252Apr 30, 2026
MYMK2Jan 26, 2024
MYO15A119Apr 30, 2026
MYO18B13Mar 14, 2025
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MYOC1Feb 3, 2026
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MYOZ212Apr 30, 2026
MYPN100Apr 30, 2026
MYRF6Apr 30, 2026
MYSM12Jun 29, 2024
MYT1L15Jul 1, 2025
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NAA155Apr 30, 2026
NAA381Jul 29, 2022
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NAE11Nov 11, 2024
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NAGS17Apr 30, 2026
NALCN56Apr 30, 2026
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NANS1Jan 26, 2024
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NARS210Feb 3, 2026
NAT8L4May 2, 2025
NAXD1Dec 9, 2025
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NBAS87Feb 3, 2026
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NBN252Apr 30, 2026
NCAPD24Feb 3, 2026
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NCAPH213Apr 30, 2026
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NCF429Apr 30, 2026
NCF4-AS110Apr 30, 2026
NCKAP1L34Apr 30, 2026
NCOR21Aug 6, 2020
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NDE1115Apr 30, 2026
NDN2Jun 16, 2025
NDP8Feb 3, 2026
NDP-AS18Feb 3, 2026
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NDUFAF31Jan 27, 2026
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NDUFS715Apr 30, 2026
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NDUFV144Apr 30, 2026
NDUFV23Feb 3, 2026
NEB368Apr 30, 2026
NEBL97Apr 30, 2026
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NEFH36Apr 30, 2026
NEFL2Jan 27, 2026
NEIL11Apr 30, 2026
NEK14Dec 9, 2025
NEK83Aug 8, 2024
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NEU125Apr 30, 2026
NEUROD114Apr 30, 2026
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NEXN33Apr 30, 2026
NF1388Apr 30, 2026
NF229Apr 30, 2026
NFASC1Mar 14, 2025
NFE2L23Mar 14, 2025
NFIA5Apr 30, 2026
NFIB4May 23, 2025
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NFKB118Apr 30, 2026
NFKB225Apr 30, 2026
NFKBIA9Feb 3, 2026
NFU13Oct 27, 2023
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NHEJ116Apr 30, 2026
NHLRC12Jun 16, 2025
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NIPSNAP3B23Apr 30, 2026
NKAP3Feb 3, 2026
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NLRP1264Apr 30, 2026
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NME11Apr 30, 2026
NME1-NME21Apr 30, 2026
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NOG3Mar 14, 2025
NOL37Apr 30, 2026
NONO12Apr 30, 2026
NOP561Jun 16, 2025
NOS1AP19Oct 2, 2023
NOS37Apr 30, 2026
NOTCH1344Apr 30, 2026
NOTCH230Apr 30, 2026
NOTCH3165Apr 30, 2026
NOVA27Dec 12, 2025
NPC1210Apr 30, 2026
NPC214Apr 30, 2026
NPHP127Apr 30, 2026
NPHP330Apr 30, 2026
NPHP3-ACAD1131Apr 30, 2026
NPHP3-AS14Apr 30, 2026
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NPRL212Apr 30, 2026
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NR0B18Dec 9, 2025
NR1I31Apr 30, 2026
NR2C2AP3Feb 3, 2026
NR2E310Dec 9, 2025
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NR3C210Apr 30, 2026
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NRAS24Apr 30, 2026
NRCAM1Feb 3, 2026
NRIP13Jul 1, 2025
NRP21Sep 10, 2024
NRXN19Feb 3, 2026
NRXN31Jun 16, 2025
NSD168Apr 30, 2026
NSD212Feb 3, 2026
NSDHL8Feb 3, 2026
NSF2Apr 30, 2026
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NSMF5Apr 30, 2026
NSRP11Jun 29, 2024
NSUN27Apr 30, 2026
NSUN32May 2, 2025
NSUN636Apr 30, 2026
NT5C22Apr 14, 2023
NT5DC122Apr 30, 2026
NTRK152Apr 30, 2026
NTRK211Apr 30, 2026
NUBPL6Feb 3, 2026
NUDT22Apr 30, 2026
NUP1072Nov 14, 2023
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NUP1551Apr 30, 2026
NUP1601Apr 30, 2026
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NUS110Apr 30, 2026
NXN1Apr 14, 2023
OAS121Apr 30, 2026
OAT23Apr 30, 2026
OBI1-AS18Apr 30, 2026
OBSCN10Apr 30, 2026
OBSCN-AS11Dec 9, 2025
OBSL1117Apr 30, 2026
OCA2114Apr 30, 2026
OCLN2Feb 3, 2026
OCRL26Apr 30, 2026
ODAD22Sep 10, 2024
ODC12Dec 9, 2025
OFD129Apr 30, 2026
OGDHL2May 23, 2025
OGT2Oct 28, 2025
OMG1Oct 2, 2023
OPA147Apr 30, 2026
OPA1-AS12May 23, 2025
OPA34Feb 3, 2026
OPHN113Apr 30, 2026
OPLAH1Oct 23, 2024
OPTN7Apr 30, 2026
OR52N41May 2, 2025
OR56B11May 2, 2025
ORAI122May 1, 2026
ORC11May 23, 2025
ORC62Sep 11, 2024
OSBPL29Apr 30, 2026
OSGEP5Jun 16, 2025
OSGIN21Sep 1, 2021
OSMR6Apr 30, 2026
OSTM13Apr 14, 2023
OTC65Apr 30, 2026
OTOA17Apr 30, 2026
OTOF92Apr 30, 2026
OTOG4Jun 29, 2024
OTOGL3Sep 10, 2024
OTUD53Apr 30, 2026
OTUD6B3Jan 27, 2026
OTUD7A1Apr 30, 2026
OTULIN16Apr 30, 2026
OTX25Apr 30, 2026
OXCT12May 23, 2025
OXR12Jun 16, 2025
OXTR31Apr 30, 2026
P2RX210Apr 30, 2026
P2RY1214Feb 3, 2026
P3H131Apr 30, 2026
P4HA21Apr 30, 2026
P4HB3Dec 12, 2025
P4HTM1May 2, 2025
PABPN12Feb 3, 2026
PACS126Apr 30, 2026
PACS26Dec 12, 2025
PAFAH1B18May 1, 2026
PAH333Apr 30, 2026
PAK15Feb 3, 2026
PAK21Apr 30, 2026
PAK35Feb 3, 2026
PAK61May 23, 2025
PALB2485Apr 30, 2026
PALD11Jul 29, 2022
PAN21Feb 3, 2026
PANK246Apr 30, 2026
PANK2-AS13May 23, 2025
PARK72Jun 29, 2024
PARN1May 23, 2025
PARS24Apr 9, 2026
PAX119Apr 30, 2026
PAX211Apr 30, 2026
PAX311Apr 30, 2026
PAX46Aug 25, 2023
PAX66Apr 30, 2026
PAX810Feb 3, 2026
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PBX15Apr 30, 2026
PC22Apr 30, 2026
PCAT71Nov 11, 2024
PCBD11Mar 14, 2025
PCCA70Apr 30, 2026
PCCB95Apr 30, 2026
PCDH1597Apr 30, 2026
PCDH1929Apr 30, 2026
PCDH71Apr 30, 2026
PCGF22May 23, 2025
PCLO57Apr 30, 2026
PCNA2Dec 9, 2025
PCNA-AS11Dec 9, 2025
PCNT31Apr 30, 2026
PCSK51Apr 19, 2022
PCSK9213Apr 30, 2026
PCYT22Jan 27, 2026
PDCD101Jun 16, 2025
PDCD22Jul 15, 2022
PDE10A10Feb 3, 2026
PDE11A6Feb 14, 2025
PDE11A-AS11Feb 9, 2022
PDE2A1Apr 30, 2026
PDE3A5Jun 24, 2025
PDE3A-AS12Jun 24, 2025
PDE3B13Apr 30, 2026
PDE4D1Feb 3, 2026
PDE6A13Apr 30, 2026
PDE8B12Apr 30, 2026
PDGFB4Apr 30, 2026
PDGFRA3Oct 28, 2025
PDGFRB16Apr 30, 2026
PDHA132Apr 30, 2026
PDHB8Apr 30, 2026
PDHX25Apr 30, 2026
PDK38Jan 27, 2026
PDLIM335Apr 30, 2026
PDP11Mar 11, 2022
PDS5B1Dec 9, 2025
PDSS23Aug 25, 2023
PDX150Apr 30, 2026
PDYN5Apr 30, 2026
PDYN-AS14Apr 30, 2026
PDZD74Apr 30, 2026
PDZD83Jun 29, 2024
PDZD91Jun 21, 2023
PEPD8Apr 30, 2026
PET1003Apr 30, 2026
PEX188Apr 9, 2026
PEX1025Dec 12, 2025
PEX11B3Apr 30, 2026
PEX1217Nov 14, 2023
PEX138Apr 30, 2026
PEX144May 23, 2025
PEX169Apr 30, 2026
PEX198Feb 3, 2026
PEX214Feb 3, 2026
PEX2620Feb 3, 2026
PEX37Oct 28, 2025
PEX514Apr 30, 2026
PEX662Apr 30, 2026
PEX731Apr 30, 2026
PFAS1Jul 25, 2023
PFKM8Feb 3, 2026
PFN13Jun 16, 2025
PGAM24Dec 9, 2025
PGAP17Apr 30, 2026
PGAP33Oct 28, 2025
PGBD35Nov 11, 2024
PGGHG1Jul 25, 2023
PGK112Apr 30, 2026
PGM19Apr 30, 2026
PGM329Apr 30, 2026
PHACTR15Dec 12, 2025
PHEX75Apr 30, 2026
PHEX-AS15Apr 30, 2026
PHF21A9Apr 30, 2026
PHF336Apr 30, 2026
PHF87Oct 28, 2025
PHGDH24Jun 16, 2025
PHIP16Dec 9, 2025
PHKA126May 1, 2026
PHKA1-AS11Dec 12, 2025
PHKA231Feb 3, 2026
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PHKB37Apr 30, 2026
PHKG215Jan 27, 2026
PHOX2B20Apr 30, 2026
PHOX2B-AS11Jan 25, 2018
PHYH11Dec 12, 2025
PI4KA6Apr 30, 2026
PIBF11Jan 26, 2024
PIDD112Dec 11, 2024
PIEZO127Apr 30, 2026
PIEZO263Apr 30, 2026
PIGA10Apr 30, 2026
PIGB6Oct 28, 2025
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PIGF1Jun 24, 2025
PIGG16May 2, 2025
PIGK3Jan 27, 2026
PIGL1Oct 13, 2022
PIGM1Dec 11, 2024
PIGN31Apr 30, 2026
PIGO6Sep 11, 2024
PIGQ2Jun 16, 2025
PIGS2Apr 30, 2026
PIGT5Apr 30, 2026
PIGV1Apr 30, 2026
PIGW6Oct 28, 2025
PIH1D23Dec 12, 2025
PIK3C2A2May 23, 2025
PIK3CA11Feb 3, 2026
PIK3CD23Apr 30, 2026
PIK3CG19Apr 30, 2026
PIK3R120Apr 30, 2026
PIK3R213Apr 30, 2026
PIK3R54Feb 14, 2025
PINK14Apr 30, 2026
PINK1-AS4Apr 30, 2026
PIP5K1C2Feb 19, 2024
PIRC666Jan 27, 2026
PITX21Feb 9, 2022
PJVK4Dec 11, 2024
PKD1963Apr 30, 2026
PKD1-AS185Apr 30, 2026
PKD1L19Apr 30, 2026
PKD1L1-AS12Dec 9, 2025
PKD269Apr 30, 2026
PKD2L2-DT39Apr 30, 2026
PKHD1360Apr 30, 2026
PKIG1Jun 16, 2025
PKLR7Apr 30, 2026
PKP2159May 1, 2026
PLA2G685Apr 30, 2026
PLA2G724Apr 30, 2026
PLAG11Feb 6, 2023
PLAU23Apr 30, 2026
PLCB16Feb 3, 2026
PLCB43Feb 3, 2026
PLCE12Apr 30, 2026
PLCG279Apr 30, 2026
PLCH12May 23, 2025
PLCH23Mar 16, 2023
PLD12Jul 9, 2024
PLEC111Apr 30, 2026
PLEKHG212Jul 1, 2025
PLEKHG31Jun 29, 2024
PLEKHG557Apr 30, 2026
PLG37Apr 30, 2026
PLIN13Apr 30, 2026
PLK42Mar 14, 2025
PLN3Apr 30, 2026
PLOD1192Apr 30, 2026
PLOD233Apr 30, 2026
PLOD32Oct 23, 2024
PLP112Feb 3, 2026
PLS12Oct 28, 2025
PLS31Apr 30, 2026
PLUT11Jan 27, 2026
PLXNA16May 2, 2025
PLXNA31Jan 26, 2024
PLXNB3-AS157Apr 30, 2026
PMM2119Apr 30, 2026
PMP24Apr 30, 2026
PMP229Jan 27, 2026
PMPCA3Jul 1, 2025
PMPCB1Feb 3, 2026
PMS2565Apr 30, 2026
PNKD18Apr 30, 2026
PNKP45Apr 30, 2026
PNP16Feb 3, 2026
PNPLA124Apr 30, 2026
PNPLA21Oct 27, 2023
PNPLA614Apr 30, 2026
PNPLA85Feb 3, 2026
PNPO20Apr 30, 2026
PNPT128Apr 30, 2026
POC1A4Dec 11, 2024
POC1B-DUSP62Dec 9, 2025
POGLUT12Dec 12, 2025
POGZ34May 1, 2026
POLA130Apr 30, 2026
POLD1156Apr 30, 2026
POLD211Apr 30, 2026
POLE207May 1, 2026
POLG222Apr 30, 2026
POLG215Apr 30, 2026
POLGARF197Apr 30, 2026
POLH20Apr 9, 2026
POLK8Apr 30, 2026
POLR1A12Apr 30, 2026
POLR1B3Feb 3, 2026
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POLR1D1Jun 24, 2025
POLR2A12Apr 30, 2026
POLR2F15Apr 30, 2026
POLR3A14Jan 27, 2026
POLR3B17Apr 30, 2026
POLR3GL1Dec 26, 2023
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POLRMT21Apr 30, 2026
POMGNT138Apr 30, 2026
POMGNT24Dec 9, 2025
POMK4Apr 30, 2026
POMP7Apr 30, 2026
POMT144Apr 30, 2026
POMT243Apr 30, 2026
PON236Feb 3, 2026
POP11Jan 26, 2024
POPDC11Nov 10, 2022
POR41Apr 30, 2026
POT12Sep 11, 2024
POU1F128Apr 30, 2026
POU2AF19Apr 30, 2026
POU3F35Dec 12, 2025
POU3F45Apr 30, 2026
POU4F18Apr 30, 2026
POU4F36Apr 30, 2026
PPA23Feb 3, 2026
PPARG2Dec 12, 2025
PPFIBP13Feb 3, 2026
PPIB11Feb 3, 2026
PPM1D9Apr 30, 2026
PPOX4Jan 27, 2026
PPP1CB19Apr 30, 2026
PPP1R12A4Jun 16, 2025
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PPP2R3C1Oct 27, 2023
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PPP2R5D15Apr 30, 2026
PPP3CA9Apr 30, 2026
PPT137Apr 30, 2026
PQBP17Apr 30, 2026
PRADX2Nov 11, 2024
PRCD3Apr 30, 2026
PRDM123Apr 30, 2026
PRDM16139Apr 30, 2026
PRDM594Apr 30, 2026
PRDM61May 2, 2025
PRDX11Apr 30, 2026
PREPL6Apr 30, 2026
PRF185Apr 30, 2026
PRICKLE111Jul 1, 2025
PRICKLE24Apr 30, 2026
PRIM11Jun 24, 2025
PRIMPOL3Jul 1, 2025
PRKACB1Nov 11, 2024
PRKAG260Apr 30, 2026
PRKAR1A75Feb 3, 2026
PRKAR1B3Feb 3, 2026
PRKCG14Apr 30, 2026
PRKCSH1Apr 30, 2026
PRKD15Dec 9, 2025
PRKDC71Apr 30, 2026
PRKG163Apr 30, 2026
PRKN14Feb 3, 2026
PRKRA1Apr 30, 2026
PRMT711Feb 3, 2026
PRNP7Apr 30, 2026
PROC19Apr 30, 2026
PRODH12Feb 3, 2026
PROK24Apr 30, 2026
PROKR234Apr 30, 2026
PROM12Dec 9, 2025
PROP126Apr 30, 2026
PRORP4Jan 27, 2026
PRORP-PSMA62Jan 27, 2026
PRPH7Feb 3, 2026
PRPH22Apr 30, 2026
PRPS14Jan 27, 2026
PRR1218Apr 30, 2026
PRR23A1Apr 30, 2026
PRR23C1Jan 27, 2026
PRRT224Apr 30, 2026
PRRX14Feb 3, 2026
PRSS194Apr 30, 2026
PRSS1210Sep 11, 2024
PRUNE12May 2, 2025
PRX49Apr 30, 2026
PSAP28Apr 30, 2026
PSAT18Apr 30, 2026
PSD1Apr 29, 2020
PSEN173Apr 30, 2026
PSEN243Apr 30, 2026
PSMA35Apr 30, 2026
PSMB109Apr 30, 2026
PSMB413Apr 30, 2026
PSMB817Apr 30, 2026
PSMB8-AS13Feb 3, 2026
PSMB910Apr 30, 2026
PSMC31Apr 30, 2026
PSMD111Jun 16, 2025
PSMD124Dec 9, 2025
PSMG210Apr 30, 2026
PSPH1Feb 3, 2026
PSTPIP133Apr 30, 2026
PTCD34Apr 30, 2026
PTCH188Apr 30, 2026
PTCH213Apr 30, 2026
PTCHD16Dec 12, 2025
PTCHD1-AS23Apr 30, 2026
PTDSS11Oct 28, 2025
PTEN174May 1, 2026
PTF1A2Feb 3, 2026
PTH1Apr 30, 2026
PTH1R1Dec 12, 2025
PTHLH2Jun 24, 2025
PTPN11173Apr 30, 2026
PTPN142Dec 9, 2025
PTPN226Apr 30, 2026
PTPN2310Feb 3, 2026
PTPN42May 23, 2025
PTPRA1Aug 8, 2024
PTPRC36Apr 30, 2026
PTPRQ8Apr 30, 2026
PTPRT1Nov 14, 2023
PTRH23Feb 3, 2026
PTS41Apr 30, 2026
PUF602Nov 14, 2023
PUM110Apr 30, 2026
PURA9Apr 30, 2026
PUS19Apr 30, 2026
PUS36Apr 30, 2026
PUS72Feb 3, 2026
PYCR127Apr 30, 2026
PYCR26Apr 30, 2026
PYGL15Apr 30, 2026
PYGM66Apr 30, 2026
PYROXD11Dec 12, 2025
PYY4Feb 14, 2025
QARS113Apr 30, 2026
QDPR22Apr 30, 2026
QRICH13Aug 8, 2024
QRSL11Oct 27, 2023
RAB181Mar 14, 2025
RAB236Oct 28, 2025
RAB27A6Oct 28, 2025
RAB33A19Apr 30, 2026
RAB39B4Dec 12, 2025
RAB3GAP16Jun 16, 2025
RAB3GAP24Dec 12, 2025
RAB7A3Feb 3, 2026
RAB9B11Feb 3, 2026
RAC113Apr 30, 2026
RAC29Apr 30, 2026
RAD214May 2, 2025
RAD50150Apr 30, 2026
RAD512Apr 30, 2026
RAD51C152Apr 30, 2026
RAD51D137Apr 30, 2026
RAD51L3-RFFL134Apr 30, 2026
RAF1127Apr 30, 2026
RAG177Apr 30, 2026
RAG237Apr 30, 2026
RAI159Apr 30, 2026
RALA3Apr 30, 2026
RANBP211Apr 30, 2026
RANGRF9Jun 24, 2025
RAPSN28Feb 3, 2026
RARS12Dec 12, 2025
RARS249Apr 30, 2026
RASA12Jun 24, 2025
RASA2123Apr 30, 2026
RASGRP12May 23, 2025
RASGRP220Apr 30, 2026
RAX1Mar 14, 2025
RB139Apr 30, 2026
RBBP84Dec 12, 2025
RBCK11Oct 2, 2023
RBFOX13Dec 11, 2024
RBL21Mar 14, 2025
RBM105Feb 3, 2026
RBM121Oct 28, 2025
RBM20116Apr 30, 2026
RBM27-POU4F36Apr 30, 2026
RBM287Apr 30, 2026
RBM8A5Dec 12, 2025
RBMX9Feb 3, 2026
RBPJ4Dec 12, 2025
RBX11Nov 14, 2023
RD33Mar 14, 2025
RDH1247Apr 30, 2026
RDH513Apr 30, 2026
RECQL411Jun 24, 2025
REEP16Apr 30, 2026
REEP24Mar 14, 2025
REL6Apr 30, 2026
RELA8Apr 30, 2026
RELB12Apr 30, 2026
RELN90Apr 30, 2026
REPS11Feb 3, 2026
RERE31Apr 30, 2026
REST1Dec 14, 2022
RET119Apr 30, 2026
RETREG16Apr 30, 2026
RETREG1-AS14Apr 30, 2026
RFT13Jul 1, 2025
RFX31Apr 30, 2026
RFX4-AS14Apr 30, 2026
RFX524Apr 30, 2026
RFX714Apr 30, 2026
RFXANK15Apr 30, 2026
RFXAP10Apr 30, 2026
RHAG5May 23, 2025
RHOBTB25Apr 30, 2026
RHOBTB2-AS11Apr 14, 2023
RHOH4Apr 30, 2026
RIC12Mar 14, 2025
RIF194Apr 30, 2026
RIGI5Apr 30, 2026
RIMS11Nov 10, 2020
RIMS21Feb 14, 2025
RIN22Jun 21, 2023
RINT11May 2, 2025
RIPK114Apr 30, 2026
RIPPLY21Dec 9, 2025
RIPPLY2-CYB5R41Dec 9, 2025
RIT152Apr 30, 2026
RLBP122Apr 30, 2026
RLIG15May 2, 2025
RLIM4Dec 12, 2025
RMC11Aug 8, 2024
RMND15Jan 27, 2026
RMRP152Apr 30, 2026
RNASE43Apr 30, 2026
RNASEH11Oct 27, 2023
RNASEH2A31Apr 30, 2026
RNASEH2B29Apr 30, 2026
RNASEH2B-AS12Mar 14, 2025
RNASEH2C18Apr 30, 2026
RNASET23Feb 14, 2025
RNF113A2Jul 1, 2025
RNF1259Apr 30, 2026
RNF171Feb 3, 2026
RNF1704May 2, 2025
RNF23Apr 30, 2026
RNF21327Apr 30, 2026
RNF213-AS16Apr 30, 2026
RNF311Apr 30, 2026
RNPC31Apr 3, 2024
RNU4ATAC4Jun 29, 2024
RNU7-121Apr 30, 2026
ROBO16Apr 30, 2026
ROBO21Mar 14, 2025
ROBO36Apr 30, 2026
ROBO42May 23, 2025
ROGDI6Apr 9, 2026
ROM11Jun 16, 2025
ROR25Jun 16, 2025
RORA14Apr 30, 2026
RORA-AS19Apr 30, 2026
RORB2May 23, 2025
RP1L12Sep 10, 2024
RP213Feb 3, 2026
RPE6567Apr 30, 2026
RPGR23Apr 30, 2026
RPGRIP137Apr 30, 2026
RPGRIP1L37Apr 30, 2026
RPH3A1Mar 6, 2020
RPIA6Dec 9, 2025
RPL103Jun 24, 2025
RPL114Feb 3, 2026
RPL271Dec 14, 2022
RPL36A-HNRNPH2235Apr 30, 2026
RPL3L2Jul 25, 2023
RPS192Oct 2, 2023
RPS236Apr 30, 2026
RPS262Dec 12, 2025
RPS281Apr 30, 2026
RPS6KA310Feb 3, 2026
RRAGD1Dec 9, 2025
RRAS64Apr 30, 2026
RRM11Mar 14, 2025
RRM2B11Feb 3, 2026
RRP7A1Mar 14, 2025
RS130Apr 30, 2026
RTEL145Apr 30, 2026
RTEL1-TNFRSF6B45Apr 30, 2026
RTN29Feb 3, 2026
RTN4IP13Oct 2, 2023
RTN4R1Mar 14, 2025
RTTN20Apr 30, 2026
RUBCN4Feb 3, 2026
RUNX16Feb 3, 2026
RUNX1-AS12Feb 3, 2026
RUNX22Jun 21, 2023
RUSC22Jun 16, 2025
RUVBL14Apr 30, 2026
RXYLT14Jul 1, 2025
RXYLT1-AS11Nov 11, 2024
RYR1368Apr 30, 2026
RYR2550Apr 30, 2026
RYR318Jun 24, 2025
S100PBP1Dec 12, 2025
S1PR22Apr 30, 2026
SACK1H1Jun 29, 2024
SACS153Apr 30, 2026
SAG4Apr 30, 2026
SALL117Apr 30, 2026
SALL419Apr 30, 2026
SAMD942Apr 30, 2026
SAMD9L18Feb 3, 2026
SAMHD140Apr 30, 2026
SARM15Nov 11, 2024
SARS12Jan 27, 2026
SASH13Nov 11, 2024
SASH35Apr 30, 2026
SASS62May 23, 2025
SATB13Jul 1, 2025
SATB217Apr 30, 2026
SBDS17Apr 30, 2026
SBF184Apr 30, 2026
SBF236Apr 30, 2026
SBF2-AS17Apr 30, 2026
SCAF410Jan 27, 2026
SCAF82Jun 16, 2025
SCAMP42Dec 31, 2020
SCARB23Apr 30, 2026
SCN10A146Apr 30, 2026
SCN11A53Apr 30, 2026
SCN1A123May 1, 2026
SCN1A-AS176Apr 30, 2026
SCN1B38Apr 30, 2026
SCN2A43Apr 30, 2026
SCN2B7Apr 30, 2026
SCN3A2Jun 24, 2025
SCN3B8Dec 12, 2025
SCN4A57Apr 30, 2026
SCN4B16Feb 3, 2026
SCN5A313Apr 30, 2026
SCN8A47Apr 30, 2026
SCN9A91Apr 30, 2026
SCNN1A1Oct 23, 2024
SCNN1B16Feb 3, 2026
SCNN1G7Feb 3, 2026
SCO14Jan 27, 2026
SCO219Apr 30, 2026
SCP21May 2, 2025
SCUBE31Nov 14, 2023
SCYL17Jan 27, 2026
SDCCAG819Feb 3, 2026
SDHA52Apr 30, 2026
SDHAF12Oct 2, 2023
SDHAF22May 23, 2025
SDHB47Apr 30, 2026
SDHC15Apr 30, 2026
SDHD16Feb 3, 2026
SDR9C712May 23, 2025
SEC23B29Apr 30, 2026
SEC24D2Oct 13, 2022
SEC31A3Feb 19, 2024
SEC61A15Apr 30, 2026
SEC631Aug 5, 2021
SECISBP21Oct 2, 2023
SELENON41Apr 30, 2026
SEMA3A4Dec 12, 2025
SEMA3E5Mar 14, 2025
SEMA6B3Oct 28, 2025
SEMA7A3Jun 24, 2025
SENCR1May 23, 2025
SEPSECS16Apr 30, 2026
SEPT5-GP1BB20Apr 30, 2026
SEPTIN927Apr 30, 2026
SEPTIN9-DT1Nov 10, 2022
SERAC11Jul 25, 2023
SERPINA122Feb 3, 2026
SERPINA61Aug 8, 2024
SERPINA71May 23, 2025
SERPINC16Jul 1, 2025
SERPINF128Apr 30, 2026
SERPING110Apr 30, 2026
SERPINH16Apr 30, 2026
SERPINI16Apr 30, 2026
SET2Feb 3, 2026
SETBP141Apr 30, 2026
SETD1A31Apr 30, 2026
SETD1B27Apr 30, 2026
SETD254Apr 30, 2026
SETD519Feb 3, 2026
SETD61Apr 30, 2026
SETX109Apr 30, 2026
SF3B11Oct 23, 2024
SF3B42May 23, 2025
SFTA310Apr 30, 2026
SFTPC1Sep 11, 2024
SGCA41Apr 30, 2026
SGCB19Apr 30, 2026
SGCD38Apr 30, 2026
SGCE16Feb 3, 2026
SGCG23Dec 12, 2025
SGPL113Apr 30, 2026
SGSH103Apr 30, 2026
SH2B11Feb 19, 2024
SH2B31Dec 11, 2024
SH2D1A6Apr 30, 2026
SH3BP240Apr 30, 2026
SH3KBP112Apr 30, 2026
SH3PXD2B3Jul 25, 2023
SH3TC267Apr 30, 2026
SHANK13Jun 24, 2025
SHANK214Apr 30, 2026
SHANK340Apr 30, 2026
SHH12Apr 30, 2026
SHLD22Mar 14, 2025
SHMT21Feb 19, 2024
SHOC258Feb 3, 2026
SHOX85Apr 30, 2026
SHPK1Apr 3, 2024
SHQ14Apr 30, 2026
SHROOM48Feb 3, 2026
SI10Apr 30, 2026
SIAE2May 23, 2025
SIAH12Jun 24, 2025
SIGMAR14Feb 3, 2026
SIK134Apr 30, 2026
SIK31Dec 11, 2024
SIL17Jan 27, 2026
SIM11Dec 2, 2020
SIM1-AS11Dec 2, 2020
SIN3A25Apr 30, 2026
SIX13Jun 16, 2025
SIX311Apr 30, 2026
SKI37Apr 30, 2026
SKIC219Feb 3, 2026
SKIC328Feb 3, 2026
SLA6Apr 30, 2026
SLC12A133Apr 30, 2026
SLC12A29Apr 30, 2026
SLC12A3119Apr 30, 2026
SLC12A519Apr 30, 2026
SLC12A5-AS11May 12, 2022
SLC12A647Apr 30, 2026
SLC13A32Jun 16, 2025
SLC13A51Aug 25, 2023
SLC16A18Jun 24, 2025
SLC16A212Apr 30, 2026
SLC16A81Dec 9, 2025
SLC17A530Apr 30, 2026
SLC17A88Feb 3, 2026
SLC19A126Apr 30, 2026
SLC19A23Jun 24, 2025
SLC19A321Feb 3, 2026
SLC1A12Sep 11, 2024
SLC1A216Dec 12, 2025
SLC1A32May 2, 2025
SLC1A3-AS12May 2, 2025
SLC1A43Feb 3, 2026
SLC20A212Dec 12, 2025
SLC22A41Jan 11, 2023
SLC22A5121Apr 30, 2026
SLC25A15May 1, 2026
SLC25A123Apr 30, 2026
SLC25A1339Apr 30, 2026
SLC25A1525Apr 30, 2026
SLC25A2033Feb 3, 2026
SLC25A211Dec 12, 2025
SLC25A221Jun 21, 2023
SLC25A243Dec 9, 2025
SLC25A264Sep 11, 2024
SLC25A322Mar 14, 2025
SLC25A359Jun 24, 2025
SLC25A418Apr 30, 2026
SLC25A469Apr 30, 2026
SLC26A126Feb 3, 2026
SLC26A114Apr 30, 2026
SLC26A248Apr 30, 2026
SLC26A312Feb 3, 2026
SLC26A4196Apr 30, 2026
SLC26A4-AS18Dec 9, 2025
SLC26A5-AS119Apr 30, 2026
SLC27A417Apr 30, 2026
SLC27A53Apr 30, 2026
SLC29A329Apr 30, 2026
SLC2A127Apr 30, 2026
SLC2A1085Apr 30, 2026
SLC2A24Jun 24, 2025
SLC2A92Jan 27, 2026
SLC30A104Dec 9, 2025
SLC30A61Feb 3, 2026
SLC30A93Apr 30, 2026
SLC32A12Feb 3, 2026
SLC33A118Apr 30, 2026
SLC34A14Feb 3, 2026
SLC34A21May 2, 2025
SLC34A363Apr 30, 2026
SLC35A11Feb 3, 2026
SLC35A24Apr 30, 2026
SLC35A37Jun 24, 2025
SLC35B24Jul 1, 2025
SLC35C112Apr 30, 2026
SLC35D2-HSD17B320Feb 3, 2026
SLC36A149Apr 30, 2026
SLC37A456Apr 30, 2026
SLC38A815Feb 3, 2026
SLC39A1362Apr 30, 2026
SLC39A145Feb 3, 2026
SLC39A412Apr 30, 2026
SLC39A53Apr 30, 2026
SLC39A79Apr 30, 2026
SLC39A84Dec 11, 2024
SLC3A118Apr 30, 2026
SLC40A13Dec 9, 2025
SLC44A412Apr 30, 2026
SLC45A237Apr 30, 2026
SLC46A116Apr 30, 2026
SLC4A113Apr 30, 2026
SLC4A1143Jan 27, 2026
SLC4A41Feb 3, 2026
SLC52A22Jul 25, 2023
SLC52A33Feb 3, 2026
SLC5A512Feb 3, 2026
SLC5A63Feb 3, 2026
SLC5A715Apr 30, 2026
SLC6A116Apr 30, 2026
SLC6A1-AS11Oct 23, 2024
SLC6A172Apr 30, 2026
SLC6A1917Apr 30, 2026
SLC6A21Jan 27, 2026
SLC6A32Dec 12, 2025
SLC6A51May 23, 2025
SLC6A835Apr 30, 2026
SLC6A95Dec 9, 2025
SLC7A141Nov 10, 2022
SLC7A14-AS11Nov 10, 2022
SLC7A6OS1Oct 27, 2023
SLC7A728Apr 30, 2026
SLC7A914Apr 30, 2026
SLC9A11Jan 6, 2022
SLC9A610Apr 30, 2026
SLC9A78Apr 30, 2026
SLC9A97Dec 9, 2025
SLCO1B12Sep 10, 2024
SLCO1B32Nov 11, 2024
SLCO1B3-SLCO1B72Nov 11, 2024
SLFN142Dec 12, 2025
SLITRK14Jun 24, 2025
SLITRK24Apr 30, 2026
SLITRK62Apr 30, 2026
SLMAP23Apr 30, 2026
SLX417Feb 3, 2026
SMAD231Feb 3, 2026
SMAD349Apr 30, 2026
SMAD4113Apr 30, 2026
SMAD660Apr 30, 2026
SMARCA11Nov 10, 2022
SMARCA236Apr 30, 2026
SMARCA415Apr 30, 2026
SMARCA53Apr 30, 2026
SMARCAL19Apr 30, 2026
SMARCB119Apr 30, 2026
SMARCC13Feb 3, 2026
SMARCC215Apr 30, 2026
SMARCD11May 23, 2025
SMARCD211Apr 30, 2026
SMARCE13Jun 13, 2025
SMC1A10Apr 30, 2026
SMC319Apr 30, 2026
SMCHD16Feb 3, 2026
SMG11Jun 24, 2025
SMG82Nov 14, 2023
SMG96Jun 16, 2025
SMN150May 1, 2026
SMN22Oct 28, 2025
SMO1Dec 9, 2025
SMPD1171Apr 30, 2026
SMPD43Dec 9, 2025
SMPX2Feb 3, 2026
SMS2Feb 3, 2026
SNAP257Apr 30, 2026
SNAP292Jun 24, 2025
SNAPC510Apr 30, 2026
SNAPIN1Apr 30, 2026
SNCB1Nov 14, 2023
SNHG1414Apr 30, 2026
SNHG3117Feb 3, 2026
SNHG42Mar 14, 2025
SNIP11Apr 14, 2023
SNORD1187Jan 27, 2026
SNRNP2001Dec 12, 2025
SNRPN5Feb 3, 2026
SNTA145Apr 30, 2026
SNURF4Feb 3, 2026
SNX101Oct 28, 2025
SNX147May 23, 2025
SNX226Feb 3, 2026
SOCS14Apr 30, 2026
SOD18Apr 30, 2026
SOD1-DT1Dec 9, 2025
SON57Apr 30, 2026
SORD9Apr 30, 2026
SOS1226Apr 30, 2026
SOS2199Apr 30, 2026
SOST2Feb 3, 2026
SOX1015Apr 30, 2026
SOX115Apr 30, 2026
SOX181Feb 3, 2026
SOX212Apr 30, 2026
SOX2-OT12Apr 30, 2026
SOX312Apr 30, 2026
SOX49Apr 30, 2026
SOX59Apr 30, 2026
SOX68Dec 12, 2025
SOX96Apr 30, 2026
SP1108Feb 3, 2026
SP1404Aug 8, 2024
SP76Apr 30, 2026
SPAG85Apr 30, 2026
SPARC7Apr 30, 2026
SPART2Jul 1, 2025
SPAST32Apr 30, 2026
SPATA2259Apr 30, 2026
SPATA725Feb 3, 2026
SPECC1L17Apr 30, 2026
SPECC1L-ADORA2A17Apr 30, 2026
SPEG10Dec 9, 2025
SPEN15Apr 30, 2026
SPG11140Apr 30, 2026
SPG215Apr 30, 2026
SPG780Apr 30, 2026
SPI13Apr 30, 2026
SPINK143Feb 3, 2026
SPINK561Apr 30, 2026
SPOP4Apr 30, 2026
SPR7Apr 30, 2026
SPRED180Apr 30, 2026
SPRY48Apr 30, 2026
SPTA11Apr 19, 2022
SPTAN171Apr 30, 2026
SPTB3Feb 3, 2026
SPTBN125Apr 30, 2026
SPTBN1-AS21Nov 14, 2023
SPTBN261Apr 30, 2026
SPTBN413Feb 3, 2026
SPTLC126Apr 30, 2026
SPTLC27Feb 3, 2026
SQOR1Oct 23, 2024
SQSTM115May 1, 2026
SRCAP110Apr 30, 2026
SRD5A216Apr 30, 2026
SRD5A31Oct 28, 2025
SRFBP136Apr 30, 2026
SRGAP11Feb 26, 2021
SRP543Feb 3, 2026
SRP721Jun 21, 2023
SRPX27Feb 3, 2026
SRRD1Apr 30, 2026
SRRM239Apr 30, 2026
SSR43Feb 3, 2026
SSUH26May 23, 2025
ST20-MTHFS1Oct 23, 2024
ST3GAL33Jun 24, 2025
ST3GAL58Apr 30, 2026
STAC35Apr 30, 2026
STAG128Apr 30, 2026
STAG24Feb 3, 2026
STAMBP2Nov 14, 2023
STAR24Apr 30, 2026
STAT11Jun 13, 2025
STAT229Apr 30, 2026
STAT356Apr 9, 2026
STAT5B23Apr 30, 2026
STEEP11Jul 29, 2022
STIL5Oct 28, 2025
STIM119Feb 3, 2026
STING120Apr 30, 2026
STK11199Apr 30, 2026
STK412Apr 30, 2026
STON1-GTF2A1L11Jan 27, 2026
STPG11Apr 30, 2026
STRA62Apr 30, 2026
STRC12May 1, 2026
STRN41Feb 3, 2026
STS1Jun 24, 2025
STT3A1Dec 12, 2025
STUB120Feb 3, 2026
STX119Apr 30, 2026
STX1B10Apr 30, 2026
STXBP113Apr 30, 2026
STXBP266Apr 30, 2026
STYXL21Mar 6, 2020
SUCLA27Apr 30, 2026
SUCLG13Feb 3, 2026
SUFU14Dec 12, 2025
SUGCT3Nov 14, 2023
SULT2B11Feb 14, 2025
SUMF140Apr 30, 2026
SUOX21Jan 27, 2026
SUPT16H6Apr 30, 2026
SURF187Apr 30, 2026
SUZ124Oct 23, 2024
SVIL1Dec 14, 2022
SYCE25Mar 14, 2025
SYK28Apr 30, 2026
SYN117Apr 30, 2026
SYNE1170Apr 30, 2026
SYNE1-AS11Dec 9, 2025
SYNE276Apr 30, 2026
SYNE414Apr 30, 2026
SYNGAP131Apr 30, 2026
SYNGAP1-AS128Apr 30, 2026
SYNJ14Mar 14, 2025
SYP10Apr 30, 2026
SYP-AS14Apr 30, 2026
SYT11Dec 11, 2024
SYT214Apr 30, 2026
SZT279Apr 30, 2026
SZT2-AS16Apr 30, 2026
TAB26Jun 24, 2025
TACR32May 2, 2025
TACR3-AS12May 2, 2025
TAF118Apr 30, 2026
TAF131Jul 9, 2024
TAF27Apr 30, 2026
TAF418Apr 30, 2026
TAF62Dec 21, 2021
TAFAZZIN16Apr 30, 2026
TANC210Apr 30, 2026
TANGO28May 1, 2026
TAOK14Feb 3, 2026
TAOK21Dec 14, 2022
TAP133Apr 30, 2026
TAP239Apr 30, 2026
TAPBP13Apr 30, 2026
TAPBPL2Apr 30, 2026
TARDBP12Apr 30, 2026
TARID13Apr 9, 2026
TARS21Jun 29, 2024
TASP11Feb 3, 2026
TAT14Feb 3, 2026
TAT-AS111Feb 3, 2026
TATDN11May 23, 2025
TBC1D2429Apr 30, 2026
TBC1D2B1Feb 14, 2025
TBC1D71May 23, 2025
TBC1D7-LOC1001303571May 23, 2025
TBC1D8B1May 2, 2025
TBCD38Apr 30, 2026
TBCE12Dec 12, 2025
TBCEL-TECTA40Apr 30, 2026
TBCK20May 1, 2026
TBK122Apr 30, 2026
TBL1XR114Apr 30, 2026
TBL1XR1-AS13May 23, 2025
TBR13May 2, 2025
TBX146Apr 30, 2026
TBX151Sep 10, 2024
TBX196Apr 30, 2026
TBX24Feb 3, 2026
TBX207Apr 30, 2026
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX514May 2, 2025
TBX62Sep 10, 2024
TBXA2R17Apr 30, 2026
TBXAS145Apr 30, 2026
TCAP21Apr 30, 2026
TCEAL12Jan 26, 2024
TCF125Apr 30, 2026
TCF2041Apr 30, 2026
TCF333Apr 30, 2026
TCF422Apr 30, 2026
TCF4-AS11Jan 27, 2026
TCHH1May 17, 2023
TCIRG132Apr 30, 2026
TCN21Oct 23, 2024
TCOF112Apr 30, 2026
TCTN115Apr 30, 2026
TCTN217Apr 30, 2026
TCTN316Apr 30, 2026
TDP22Oct 28, 2025
TEAD31Nov 11, 2024
TECPR234Apr 30, 2026
TECR4May 23, 2025
TECRL13Feb 3, 2026
TECTA40Apr 30, 2026
TEK2Jun 29, 2024
TELO29Apr 30, 2026
TENM411Feb 3, 2026
TENT5A2Oct 23, 2024
TERC1Aug 8, 2024
TERF2IP1Feb 3, 2026
TERT25Apr 30, 2026
TET312Apr 30, 2026
TEX121Jan 11, 2023
TF6Apr 30, 2026
TFAP2A4Feb 3, 2026
TFAP2A-AS22Feb 3, 2026
TFAP2B3May 1, 2026
TFE32Apr 30, 2026
TFG12Apr 30, 2026
TFR28Feb 3, 2026
TFRC23Apr 30, 2026
TG97Apr 30, 2026
TGDS3May 23, 2025
TGFB11Sep 11, 2024
TGFB248Apr 30, 2026
TGFB352Apr 30, 2026
TGFBR163Apr 30, 2026
TGFBR273Apr 30, 2026
TGM160Apr 30, 2026
TGM627Apr 30, 2026
TH46Apr 30, 2026
TH2-LCR15Feb 3, 2026
TH2LCRR25Feb 3, 2026
THAP12Jan 27, 2026
THAP111Oct 23, 2024
THBD21Apr 30, 2026
THG1L1May 23, 2025
THOC211Feb 3, 2026
THPO4Apr 30, 2026
THRA8Jan 27, 2026
THRB55Apr 30, 2026
THSD11Dec 14, 2022
THTPA28Apr 30, 2026
THUMPD11Dec 26, 2023
TIA17Dec 9, 2025
TIALD5Apr 30, 2026
TIAM19May 23, 2025
TIE11Jan 27, 2026
TIGD12Oct 23, 2024
TIMELESS1Feb 19, 2024
TIMMDC17Apr 30, 2026
TINF26Apr 30, 2026
TIRAP-AS11Sep 11, 2024
TJP23Jan 27, 2026
TK239Apr 30, 2026
TKT1Feb 19, 2024
TLDC22Feb 3, 2026
TLK28Feb 3, 2026
TLL12Nov 11, 2024
TLN11May 2, 2025
TLR81Apr 30, 2026
TLR8-AS11Apr 30, 2026
TM4SF207Apr 30, 2026
TMC126Apr 30, 2026
TMCO11Nov 14, 2023
TMEM10710Jan 27, 2026
TMEM126B4Feb 3, 2026
TMEM12715Jan 27, 2026
TMEM1386Apr 30, 2026
TMEM167A1Apr 30, 2026
TMEM1861Apr 3, 2024
TMEM21613Apr 30, 2026
TMEM2222Dec 11, 2024
TMEM23120Apr 30, 2026
TMEM23710Apr 30, 2026
TMEM2407Jun 24, 2025
TMEM2602May 2, 2025
TMEM38B22Apr 30, 2026
TMEM4388Apr 30, 2026
TMEM50B1Aug 18, 2011
TMEM541Jan 26, 2024
TMEM63A9Apr 30, 2026
TMEM6764Apr 30, 2026
TMEM707Feb 3, 2026
TMEM944Apr 30, 2026
TMLHE5May 23, 2025
TMPO52Apr 30, 2026
TMPO-AS19Feb 3, 2026
TMPPE4May 2, 2025
TMPRSS151Feb 3, 2026
TMPRSS337Apr 30, 2026
TMTC33Apr 30, 2026
TMX22Jun 29, 2024
TMX2-CTNND13Jun 29, 2024
TNC30Apr 30, 2026
TNFAIP323Apr 30, 2026
TNFAIP8L21Jan 26, 2024
TNFAIP8L2-SCNM11Jan 26, 2024
TNFRSF11A2Feb 3, 2026
TNFRSF13B26Apr 30, 2026
TNFRSF13C9Apr 30, 2026
TNFRSF1A21Apr 30, 2026
TNFRSF410Apr 30, 2026
TNFSF113Jul 15, 2022
TNFSF127Apr 30, 2026
TNFSF12-TNFSF1312Apr 30, 2026
TNFSF135Feb 3, 2026
TNIK2May 23, 2025
TNNC117Apr 30, 2026
TNNI348Apr 30, 2026
TNNI3K1Apr 30, 2026
TNNT11Sep 11, 2024
TNNT258Apr 30, 2026
TNNT31Oct 2, 2023
TNPO28Dec 9, 2025
TNPO310Apr 30, 2026
TNR3Apr 30, 2026
TNRC6B21Apr 30, 2026
TNS22Dec 11, 2024
TNXB637Apr 30, 2026
TOE110Apr 30, 2026
TOGARAM13Feb 3, 2026
TOM11Sep 10, 2024
TONSL2Sep 11, 2024
TONSL-AS11Sep 11, 2024
TOP2B31Apr 30, 2026
TOP3A2May 23, 2025
TOPORS1Oct 6, 2020
TOR1A2Sep 10, 2024
TOR1AIP14Jul 1, 2025
TP53182Apr 30, 2026
TP53RK2Feb 3, 2026
TP636Jan 27, 2026
TPD52-MRPS281May 23, 2025
TPH22Apr 30, 2026
TPK12May 23, 2025
TPM134Feb 3, 2026
TPM24Feb 3, 2026
TPM31Feb 3, 2026
TPO49Apr 30, 2026
TPP174Apr 30, 2026
TPP21Aug 8, 2024
TPR4Jun 24, 2025
TPRKB1Aug 25, 2023
TPRN5Oct 28, 2025
TRAF78Apr 30, 2026
TRAK16Apr 30, 2026
TRAP11Apr 30, 2026
TRAPPC102Mar 14, 2025
TRAPPC1124Apr 30, 2026
TRAPPC125Apr 30, 2026
TRAPPC12-AS12Apr 30, 2026
TRAPPC2L3Oct 28, 2025
TRAPPC6B2Oct 23, 2024
TRAPPC919Apr 30, 2026
TRB94Apr 30, 2026
TRDN66Apr 30, 2026
TRDN-AS13Dec 9, 2025
TREM24Feb 3, 2026
TREX139Apr 30, 2026
TRHR4Apr 30, 2026
TRIM141Jan 26, 2024
TRIM29Apr 30, 2026
TRIM226Jul 1, 2025
TRIM3211Apr 30, 2026
TRIM372Jul 1, 2025
TRIM51Mar 14, 2025
TRIM59-IFT801Dec 31, 2020
TRIM6344Apr 30, 2026
TRIM711Feb 3, 2026
TRIM84Apr 30, 2026
TRIO96Apr 30, 2026
TRIOBP11Jul 1, 2025
TRIP113Dec 11, 2024
TRIP1224Apr 30, 2026
TRIP44Apr 30, 2026
TRIT12Jun 24, 2025
TRMT16Jun 13, 2025
TRMT10A1Apr 30, 2026
TRMT10C3Dec 9, 2025
TRMT53Feb 3, 2026
TRMU23Apr 30, 2026
TRNT112Apr 30, 2026
TROAP-AS14Feb 3, 2026
TRPA118Apr 30, 2026
TRPC36Feb 3, 2026
TRPC61Dec 11, 2024
TRPM11Nov 10, 2022
TRPM310Apr 30, 2026
TRPM476Apr 30, 2026
TRPM66Feb 3, 2026
TRPM732Apr 30, 2026
TRPS15Dec 9, 2025
TRPT11Jan 27, 2026
TRPV433Apr 30, 2026
TRRAP30Apr 30, 2026
TSBP1-AS11Dec 12, 2025
TSC198May 1, 2026
TSC2232Apr 30, 2026
TSEN217Dec 12, 2025
TSEN342Feb 6, 2023
TSEN5420Apr 30, 2026
TSFM7Oct 28, 2025
TSHB3Jun 13, 2025
TSHR61Apr 30, 2026
TSHR-AS157Apr 30, 2026
TSHZ113Apr 30, 2026
TSPAN133Apr 30, 2026
TSPAN3129Feb 3, 2026
TSPAN72Apr 3, 2024
TSPEAR6Apr 30, 2026
TSR23Jun 24, 2025
TTBK29Apr 30, 2026
TTC194Jun 24, 2025
TTC21B2Feb 3, 2026
TTC36-AS16Apr 30, 2026
TTC7A26Apr 30, 2026
TTC89Dec 9, 2025
TTI14Dec 11, 2024
TTI22May 23, 2025
TTN3234May 1, 2026
TTN-AS11848May 1, 2026
TTPA25Apr 30, 2026
TTR72Apr 30, 2026
TUBA1A10Apr 30, 2026
TUBA4A3Apr 30, 2026
TUBA82Apr 30, 2026
TUBB2May 23, 2025
TUBB119Feb 3, 2026
TUBB2A3Sep 11, 2024
TUBB2B3Apr 30, 2026
TUBB321Apr 30, 2026
TUBB4A15Apr 30, 2026
TUBB66May 23, 2025
TUBG17Apr 30, 2026
TUBGCP23Nov 14, 2023
TUBGCP41Nov 11, 2024
TUBGCP621Apr 30, 2026
TUFM2Dec 11, 2024
TULP136Apr 30, 2026
TUSC35Jan 27, 2026
TWIST111Apr 30, 2026
TWIST21Jun 29, 2024
TWNK30Apr 30, 2026
TXN22Feb 3, 2026
TXNL4A1Nov 10, 2022
TYK21Jun 16, 2025
TYMP25Apr 30, 2026
TYR113Apr 30, 2026
TYROBP1Oct 13, 2022
TYRP117Feb 3, 2026
U2AF23Jan 27, 2026
UBA15Feb 3, 2026
UBA22Jun 24, 2025
UBA53Oct 28, 2025
UBAP12Dec 12, 2025
UBB2Feb 3, 2026
UBE2A3Oct 28, 2025
UBE3A10Apr 30, 2026
UBE3B6Apr 30, 2026
UBE4A4Dec 9, 2025
UBQLN24Apr 30, 2026
UBR114Feb 3, 2026
UBR53Apr 30, 2026
UBTF21Apr 30, 2026
UCHL14Jan 27, 2026
UCP25Apr 30, 2026
UFSP21Feb 14, 2025
UGDH1Jul 1, 2025
UGT1A30Apr 30, 2026
UGT1A129Apr 30, 2026
UGT1A1030Apr 30, 2026
UGT1A329Apr 30, 2026
UGT1A429Apr 30, 2026
UGT1A529Apr 30, 2026
UGT1A629Apr 30, 2026
UGT1A729Apr 30, 2026
UGT1A830Apr 30, 2026
UGT1A929Apr 30, 2026
UMPS3Jun 29, 2024
UNC13A2Apr 30, 2026
UNC13D67Feb 3, 2026
UNC8038Feb 3, 2026
UNG12Apr 30, 2026
UPB110Apr 30, 2026
UPF3B4Apr 30, 2026
UQCRB1May 23, 2025
UQCRB-AS11May 23, 2025
UQCRC22Apr 30, 2026
UQCRFS11Dec 26, 2023
UROC15Apr 30, 2026
UROD4Jul 1, 2025
UROS1Jul 25, 2023
USB17Apr 30, 2026
USH1C19Jul 1, 2025
USH1G10Jun 24, 2025
USH2A470Apr 30, 2026
USH2A-AS131Apr 30, 2026
USH2A-AS228Apr 30, 2026
USP185Apr 30, 2026
USP27X4Jul 1, 2025
USP710Dec 12, 2025
USP7-AS12Jun 16, 2025
USP9X14Jan 27, 2026
UTS2B1Dec 12, 2025
VAC142Dec 11, 2024
VAMP12Apr 30, 2026
VAMP21Jul 1, 2025
VANGL16Apr 30, 2026
VARS110Apr 30, 2026
VARS212Apr 30, 2026
VCAN4Feb 3, 2026
VCAN-AS12Dec 9, 2025
VCL77Apr 30, 2026
VCP15Apr 30, 2026
VDR26Apr 30, 2026
VHL113Apr 30, 2026
VIPAS3918Apr 30, 2026
VLDLR9Apr 30, 2026
VLDLR-AS11Mar 14, 2025
VMA216May 2, 2025
VMA222Feb 3, 2026
VPS113Apr 30, 2026
VPS13A34Apr 30, 2026
VPS13B171Apr 30, 2026
VPS13C17Apr 30, 2026
VPS13D3Jan 27, 2026
VPS166Apr 30, 2026
VPS33A1Feb 19, 2024
VPS33B28Apr 30, 2026
VPS353Jan 27, 2026
VPS35L1Sep 11, 2024
VPS37A3Feb 3, 2026
VPS4512Apr 30, 2026
VPS4A2Mar 14, 2025
VPS502Apr 30, 2026
VPS512Feb 14, 2025
VPS5328Feb 3, 2026
VRK114Feb 3, 2026
VRK26Feb 3, 2026
VSX22Jul 9, 2024
VWA117Apr 30, 2026
VWA3B20Apr 30, 2026
VWF459May 1, 2026
WAC31Apr 30, 2026
WARS16Feb 3, 2026
WARS24Apr 30, 2026
WARS2-AS11Dec 11, 2024
WAS64Apr 30, 2026
WASF17Dec 9, 2025
WASHC46Jul 1, 2025
WASHC527Apr 30, 2026
WASHC5-AS15Apr 30, 2026
WBP114May 23, 2025
WDFY317Feb 3, 2026
WDFY3-AS12Mar 14, 2025
WDPCP3Sep 11, 2024
WDR11Jun 13, 2025
WDR119Apr 30, 2026
WDR191Dec 21, 2021
WDR269Apr 30, 2026
WDR354Nov 11, 2024
WDR372May 23, 2025
WDR45Jul 1, 2025
WDR458Apr 30, 2026
WDR6221Apr 30, 2026
WDR739Apr 30, 2026
WDR8111Apr 30, 2026
WFS172Apr 30, 2026
WHRN16Apr 30, 2026
WNK157Apr 30, 2026
WNK39Apr 30, 2026
WNK422Apr 30, 2026
WNT116Feb 3, 2026
WNT10A15Feb 3, 2026
WNT5A3Jun 16, 2025
WNT7A1Dec 26, 2023
WNT9B1Apr 30, 2026
WRN30Apr 30, 2026
WT116Jun 24, 2025
WWOX20Apr 30, 2026
XDH10Apr 30, 2026
XIAP3Jun 24, 2025
XK6Apr 30, 2026
XPA25Feb 3, 2026
XPC47Apr 30, 2026
XPNPEP32Mar 14, 2025
XPO11Sep 10, 2024
XPR123Apr 30, 2026
XRCC14Oct 28, 2025
XRCC42Dec 12, 2025
XYLT11Sep 11, 2024
XYLT22Apr 30, 2026
YAP15Apr 30, 2026
YARS121Apr 30, 2026
YARS23Apr 30, 2026
YME1L11Mar 14, 2025
YTHDF31Jun 21, 2023
YWHAG4Apr 30, 2026
YY11May 23, 2025
YY1AP11Dec 12, 2025
ZAP7037Apr 30, 2026
ZBTB114Feb 3, 2026
ZBTB11-AS11Jun 21, 2023
ZBTB182Apr 30, 2026
ZBTB208Apr 30, 2026
ZBTB20-AS13Feb 3, 2026
ZBTB2410Apr 30, 2026
ZBTB253Jan 11, 2023
ZBTB471Jun 16, 2025
ZBTB7A5Apr 30, 2026
ZC3H143May 23, 2025
ZC4H26Apr 30, 2026
ZDHHC2430Jul 1, 2025
ZDHHC94Feb 3, 2026
ZEB219Apr 30, 2026
ZFHX228Apr 30, 2026
ZFHX33Feb 3, 2026
ZFHX3-AS11Mar 14, 2025
ZFPM11Oct 6, 2020
ZFPM220Apr 30, 2026
ZFPM2-AS118Apr 30, 2026
ZFYVE2641Apr 30, 2026
ZFYVE2714Apr 30, 2026
ZGRF11Oct 27, 2023
ZIC17Feb 3, 2026
ZIC24Nov 11, 2024
ZIC32Oct 28, 2025
ZMIZ19Apr 30, 2026
ZMYM214Feb 3, 2026
ZMYM35Jan 27, 2026
ZMYND116Dec 11, 2024
ZNF1426Feb 3, 2026
ZNF1483Dec 9, 2025
ZNF27624Feb 3, 2026
ZNF29223Feb 3, 2026
ZNF3352Aug 8, 2024
ZNF34120Apr 30, 2026
ZNF341-AS19Apr 30, 2026
ZNF40713Feb 3, 2026
ZNF4235Feb 3, 2026
ZNF46231Apr 30, 2026
ZNF469802May 1, 2026
ZNF518A3Feb 3, 2026
ZNF6279Feb 3, 2026
ZNF6443May 2, 2025
ZNF68716Apr 30, 2026
ZNF6991Apr 14, 2023
ZNF7119Feb 3, 2026
ZNHIT34Dec 11, 2024
ZPR11Dec 12, 2025
ZRANB31Aug 8, 2024
ZRS1Oct 23, 2024
ZSWIM626Apr 30, 2026

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria9Dec 12, 2025
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia5Apr 30, 2026
3-M syndrome13Feb 3, 2026
3-Methylglutaconic aciduria type 24May 2, 2025
3-Methylglutaconic aciduria type 32Sep 10, 2024
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency7Apr 30, 2026
3-hydroxy-3-methylglutaryl-CoA synthase deficiency7Feb 3, 2026
3-hydroxyisobutyryl-CoA hydrolase deficiency4Dec 12, 2025
3-methylglutaconic aciduria type 13Dec 11, 2024
3-methylglutaconic aciduria, type VIIB3Apr 30, 2026
3M syndrome 26Jun 24, 2025
3MC syndrome 11Nov 10, 2022
3MC syndrome 21Nov 14, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency34Feb 3, 2026
8q24.3 microdeletion syndrome1Nov 16, 2021
AARS2-related disorder6May 2, 2025
ACAN-related disorder6Dec 12, 2025
ACCES syndrome1Nov 11, 2024
ACE-related disorder1Nov 10, 2022
ACO2-related disorder1Jan 27, 2026
ACTG1-related disorder1Feb 6, 2023
ACVRL1-related disorder1Jun 21, 2023
ADAMTSL4-related disorder2Feb 14, 2025
ADGRV1-related disorder7Jul 1, 2025
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Dec 12, 2025
AGK-related disorder1Jan 26, 2024
AICA-ribosiduria1Feb 14, 2025
ALDH18A1-related disorder1May 17, 2023
ALG1-congenital disorder of glycosylation16Feb 3, 2026
ALG11-congenital disorder of glycosylation2Feb 3, 2026
ALG12-congenital disorder of glycosylation5Dec 12, 2025
ALG2-congenital disorder of glycosylation1Sep 11, 2024
ALG3-congenital disorder of glycosylation8Feb 3, 2026
ALG6-congenital disorder of glycosylation 1C8Feb 3, 2026
AMACR-related disorder1Oct 28, 2025
APC2-related disorder1Feb 3, 2026
ARHGAP29-related disorder1Sep 10, 2024
ASCC1-related disorder1Jun 29, 2024
ATP1A3-associated neurological disorder1Feb 6, 2023
ATP1A3-related disorder1Nov 10, 2022
ATP2A2-related disorder1Feb 3, 2026
Aarskog syndrome1Feb 14, 2025
Abdominal obesity-metabolic syndrome 41Feb 3, 2026
Abetalipoproteinaemia13Jun 21, 2023
Acetazolamide-responsive myotonia2Oct 27, 2023
Achondrogenesis type II10Feb 19, 2024
Achondroplasia6Nov 11, 2024
Achromatopsia 235Apr 30, 2026
Achromatopsia 316Feb 3, 2026
Acrocallosal syndrome5Jan 27, 2026
Action myoclonus-renal failure syndrome1Nov 14, 2023
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins59Apr 30, 2026
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Nov 11, 2024
Acute intermittent porphyria2Jun 24, 2025
Adams-Oliver syndrome 25Feb 3, 2026
Adams-Oliver syndrome 52Sep 10, 2024
Adenylosuccinate lyase deficiency8Apr 30, 2026
Adrenoleukodystrophy51Feb 3, 2026
Adult hypophosphatasia2Apr 30, 2026
Agammaglobulinemia 4, autosomal recessive1Mar 14, 2025
Agammaglobulinemia 8, autosomal dominant1Jul 25, 2023
Age related macular degeneration 71Aug 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy9Feb 3, 2026
Aicardi Goutieres syndrome25Apr 30, 2026
Aicardi-Goutieres syndrome 16May 24, 2025
Aicardi-Goutieres syndrome 22Jan 27, 2026
Aicardi-Goutieres syndrome 53Apr 30, 2026
Aicardi-Goutieres syndrome 61Apr 9, 2026
Aicardi-Goutieres syndrome 91May 23, 2025
Al-Raqad syndrome2Mar 16, 2023
Alagille syndrome due to a JAG1 point mutation2Dec 9, 2025
Alexander disease3Dec 12, 2025
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alkaptonuria7Feb 3, 2026
Alkuraya-Kucinskas syndrome5Apr 30, 2026
Allan-Herndon-Dudley syndrome4May 23, 2025
Alpha thalassemia-X-linked intellectual disability syndrome10Jan 27, 2026
Alpha-1-antitrypsin deficiency9Jul 1, 2025
Alpha-N-acetylgalactosaminidase deficiency4Jun 24, 2025
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alstrom syndrome41Feb 3, 2026
Alternating hemiplegia of childhood 12Jun 29, 2024
Alveolar capillary dysplasia with pulmonary venous misalignment1Oct 28, 2025
Alzahrani-Kuwahara syndrome2Nov 14, 2023
Alzheimer disease2Feb 19, 2024
Alzheimer disease 318Apr 30, 2026
Alzheimer disease 41May 23, 2025
Amelocerebrohypohidrotic syndrome2Apr 9, 2026
Aminoacylase 1 deficiency5Dec 9, 2025
Amyloidosis, hereditary systemic 127Dec 9, 2025
Amyloidosis, primary localized cutaneous, 31Jun 24, 2025
Amyotrophic lateral sclerosis type 12Feb 3, 2026
Amyotrophic lateral sclerosis type 41Sep 14, 2022
Amyotrophic lateral sclerosis type 91Sep 14, 2022
Andersen Tawil syndrome1Aug 8, 2024
Androgen resistance syndrome4Dec 11, 2024
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Jan 27, 2026
Angelman syndrome2Oct 23, 2024
Anhidrotic ectodermal dysplasia5May 2, 2025
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency12Dec 9, 2025
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency49Apr 30, 2026
Aromatase deficiency1May 17, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma3Apr 30, 2026
Arrhythmogenic right ventricular cardiomyopathy5Sep 24, 2019
Arterial tortuosity syndrome6Oct 23, 2024
Arthrogryposis, distal, type 2B21Oct 2, 2023
Arthrogryposis, distal, with impaired proprioception and touch2Feb 3, 2026
Aspartylglucosaminuria13Jun 16, 2025
Asphyxiating thoracic dystrophy 11Oct 23, 2024
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Asphyxiating thoracic dystrophy 323Apr 30, 2026
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome9Feb 3, 2026
Ataxia - oculomotor apraxia type 48Apr 30, 2026
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Jul 1, 2025
Ataxia-telangiectasia syndrome245Apr 30, 2026
Ataxia-telangiectasia-like disorder3Feb 3, 2026
Atrial fibrillation, familial, 181Oct 23, 2024
Atrial septal defect1Nov 20, 2015
Atrial septal defect 73Apr 11, 2018
Atrophia bulborum hereditaria1Jul 9, 2024
Attenuated familial adenomatous polyposis1Jun 13, 2025
Atypical glycine encephalopathy3Dec 9, 2025
Atypical hemolytic-uremic syndrome1Apr 30, 2026
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Apr 30, 2026
Au-Kline syndrome1Jun 29, 2024
Auriculocondylar syndrome1May 23, 2025
Autism spectrum disorder - epilepsy - arthrogryposis syndrome4Nov 11, 2024
Autism spectrum disorder due to AUTS2 deficiency2Jul 1, 2025
Autism, susceptibility to, 152Jun 16, 2025
Autism, susceptibility to, 172Apr 30, 2026
Autoimmune lymphoproliferative syndrome type 2B1Apr 30, 2026
Autoinflammation with episodic fever and lymphadenopathy1Jul 1, 2025
Autoinflammatory syndrome, familial, X-linked, Behcet-like 21Apr 30, 2026
Autosomal dominant Alport syndrome2Jul 1, 2025
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Dec 12, 2025
Autosomal dominant Parkinson disease 83Apr 30, 2026
Autosomal dominant epilepsy18May 2, 2025
Autosomal dominant hypocalcemia10Apr 30, 2026
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal dominant nocturnal frontal lobe epilepsy 31Jun 21, 2023
Autosomal dominant nonsyndromic hearing loss 114Apr 30, 2026
Autosomal dominant nonsyndromic hearing loss 121Apr 30, 2026
Autosomal dominant nonsyndromic hearing loss 4A1Feb 14, 2025
Autosomal recessive Alport syndrome68Apr 30, 2026
Autosomal recessive DOPA responsive dystonia19Apr 30, 2026
Autosomal recessive ataxia due to ubiquinone deficiency4Jan 27, 2026
Autosomal recessive ataxia, Beauce type4Apr 30, 2026
Autosomal recessive axonal neuropathy with neuromyotonia5Dec 12, 2025
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1Jan 27, 2026
Autosomal recessive distal renal tubular acidosis6Jun 16, 2025
Autosomal recessive distal spinal muscular atrophy 111Apr 30, 2026
Autosomal recessive early-onset Parkinson disease 237Apr 30, 2026
Autosomal recessive hypophosphatemic bone disease6Apr 30, 2026
Autosomal recessive inherited pseudoxanthoma elasticum1Apr 19, 2022
Autosomal recessive juvenile Parkinson disease 28Feb 3, 2026
Autosomal recessive limb-girdle muscular dystrophy241Apr 30, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2A7Apr 30, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2B8Apr 30, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2C1Oct 28, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2J22May 23, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2L5Feb 3, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2M1Mar 14, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2T1Oct 28, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 10, 2022
Autosomal recessive limb-girdle muscular dystrophy type R182Apr 30, 2026
Autosomal recessive non-syndromic intellectual disability2Oct 2, 2023
Autosomal recessive nonsyndromic hearing loss 151May 2, 2025
Autosomal recessive nonsyndromic hearing loss 18B1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 1A70Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 215Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 225Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 251Dec 2, 2020
Autosomal recessive nonsyndromic hearing loss 291Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 337Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 305Feb 3, 2026
Autosomal recessive nonsyndromic hearing loss 351Feb 3, 2026
Autosomal recessive nonsyndromic hearing loss 421Sep 10, 2024
Autosomal recessive nonsyndromic hearing loss 481Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 593Nov 11, 2024
Autosomal recessive nonsyndromic hearing loss 791Jul 15, 2022
Autosomal recessive nonsyndromic hearing loss 817Apr 30, 2026
Autosomal recessive nonsyndromic hearing loss 84A3Feb 3, 2026
Autosomal recessive nonsyndromic hearing loss 84B2Sep 10, 2024
Autosomal recessive nonsyndromic hearing loss 891Dec 9, 2025
Autosomal recessive nonsyndromic hearing loss 91Oct 6, 2020
Autosomal recessive osteopetrosis 41Feb 3, 2026
Autosomal recessive osteopetrosis 81Oct 28, 2025
Autosomal recessive polycystic kidney disease151Apr 30, 2026
Autosomal recessive primary microcephaly36Apr 30, 2026
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency4Jun 24, 2025
Autosomal recessive spastic paraplegia type 765Apr 30, 2026
Autosomal recessive spinocerebellar ataxia 1011Oct 28, 2025
Autosomal recessive spinocerebellar ataxia 162May 23, 2025
Autosomal recessive spinocerebellar ataxia 172Jan 27, 2026
Autosomal recessive spinocerebellar ataxia 182Nov 10, 2022
Autosomal recessive spinocerebellar ataxia 21Jul 1, 2025
Autosomal recessive spinocerebellar ataxia 203Dec 11, 2024
Autosomal recessive titinopathy26Apr 30, 2026
Axenfeld-Rieger syndrome type 11Feb 9, 2022
BCL11B-related disorder3Apr 30, 2026
BRSK2-related disorder2Dec 9, 2025
BSCL2-related disorder2Oct 23, 2024
Bailey-Bloch congenital myopathy1Sep 14, 2022
Baraitser-Winter syndrome 12Apr 30, 2026
Bardet-Biedl syndrome150Apr 30, 2026
Bardet-Biedl syndrome 103Mar 6, 2020
Bardet-Biedl syndrome 152Sep 11, 2024
Bardet-Biedl syndrome 191Dec 26, 2023
Bardet-Biedl syndrome 23Apr 24, 2019
Bardet-Biedl syndrome 71Dec 12, 2025
Bartter syndrome35Feb 3, 2026
Basal ganglia calcification, idiopathic, 51Sep 10, 2024
Basal ganglia calcification, idiopathic, 7, autosomal recessive1Dec 9, 2025
Beck-Fahrner syndrome1Sep 10, 2024
Benign familial hematuria3Apr 30, 2026
Benign hereditary chorea2Mar 14, 2025
Bernard Soulier syndrome14Apr 30, 2026
Bernard-Soulier syndrome, type A2, autosomal dominant1Jul 25, 2023
Beta thalassemia intermedia12Jun 16, 2025
Beta-D-mannosidosis20Apr 30, 2026
Beta-thalassemia HBB/LCRB1Feb 19, 2024
Beta-thalassemia major6May 2, 2025
Bethlem myopathy 21Nov 14, 2023
Bifunctional peroxisomal enzyme deficiency24Apr 30, 2026
Bilateral frontoparietal polymicrogyria6Jul 1, 2025
Biotin-responsive basal ganglia disease9Feb 3, 2026
Biotinidase deficiency59Apr 30, 2026
Birt-Hogg-Dube syndrome15Apr 30, 2026
Blau syndrome1Apr 30, 2026
Bloom syndrome46Apr 30, 2026
Bohring-Opitz syndrome12Jun 16, 2025
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type B11Oct 27, 2023
Brachydactyly type E22Jun 24, 2025
Brain abnormalities, neurodegeneration, and dysosteosclerosis2May 23, 2025
Brain malformations with or without urinary tract defects1Apr 30, 2026
Brain small vessel disease 1 with or without ocular anomalies6Feb 3, 2026
Brain small vessel disease 2A, autosomal dominant4Jun 24, 2025
Branchiootic syndrome 31Aug 30, 2022
Brittle cornea syndrome 119Apr 30, 2026
Brittle cornea syndrome 211Apr 30, 2026
Brody myopathy3Feb 3, 2026
Brown-Vialetto-van Laere syndrome 11Feb 6, 2023
Brown-Vialetto-van Laere syndrome 22Jul 25, 2023
Brugada syndrome1Feb 3, 2026
Brugada syndrome (shorter-than-normal QT interval)17Dec 12, 2025
Bryant-Li-Bhoj neurodevelopmental syndrome 21Dec 26, 2023
C1orf69-related disorder1Feb 6, 2023
C1orf69/IBA57-related disorder1Oct 13, 2022
C2-related disorder1Oct 27, 2023
CARASIL syndrome2Apr 30, 2026
CBL-related disorder1Dec 12, 2025
CC2D2A-related disorder5Feb 3, 2026
CCDC115-CDG1Mar 21, 2025
CCDC82-Related Disorders1Jan 27, 2026
CCDC88C-related disorder4Feb 3, 2026
CD36-related disorder8Apr 30, 2026
CEDNIK syndrome1Jul 9, 2024
CEP120-related disorder2Jan 27, 2026
CEP152-related disorder5Feb 3, 2026
CEP290-related disorder32May 2, 2025
CFH-related disorder3May 23, 2025
CHARGE syndrome8May 23, 2025
CHD8-related disorder3Feb 3, 2026
CHIME syndrome1Oct 13, 2022
CHRND-related disorder1Jun 24, 2025
CLCN2-related disorder6Dec 12, 2025
CNNM2-Related Disorders1Sep 10, 2024
COASY-Related Disorders2Jun 24, 2025
CODAS syndrome1Feb 6, 2023
COG4-Related Disorders2Feb 3, 2026
COG5-congenital disorder of glycosylation3Jun 29, 2024
COG6-congenital disorder of glycosylation1Feb 9, 2022
COG8-congenital disorder of glycosylation1Mar 11, 2022
COL11A2-related disorder3May 23, 2025
COL7A1-related disorder15Dec 9, 2024
COL9A1-related disorder4Jan 27, 2026
CSF3R-Related Disorders1Aug 8, 2024
CTCF-related neurodevelopmental disorder1Jul 1, 2020
CUL3-related disorder1Oct 13, 2022
Camptomelic dysplasia1Aug 8, 2024
Canavan Disease, Familial Form42Apr 30, 2026
Capillary malformation-arteriovenous malformation 21Dec 26, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome4Jun 24, 2025
Cardiac arrhythmia80Feb 3, 2026
Cardiac valvular defect, developmental2Jul 9, 2024
Cardio-facio-cutaneous syndrome20Apr 30, 2026
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Jun 21, 2023
Cardiomyopathy175Apr 30, 2026
Cardiomyopathy, dilated, 2D1Jul 25, 2023
Cardiovascular phenotype26Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency22Feb 3, 2026
Carnitine palmitoyl transferase 1A deficiency9Apr 30, 2026
Carnitine palmitoyltransferase II deficiency28Apr 30, 2026
Carpenter syndrome6Jan 26, 2024
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1Mar 14, 2025
Catecholaminergic polymorphic ventricular tachycardia1Apr 29, 2020
Catecholaminergic polymorphic ventricular tachycardia 111Apr 30, 2026
Catel-Manzke syndrome2Jan 11, 2023
Central core myopathy2Jan 27, 2026
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 14Apr 30, 2026
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 23Jun 29, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 43Sep 11, 2024
Cerebellar atrophy, visual impairment, and psychomotor retardation;5Apr 30, 2026
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Jun 16, 2025
Cerebral amyloid angiopathy, APP-related3May 23, 2025
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 124Apr 30, 2026
Cerebral cavernous malformation 22Dec 26, 2023
Cerebro-facio-thoracic dysplasia1Nov 14, 2023
Cerebrooculofacioskeletal syndrome 14May 2, 2025
Cerebrooculofacioskeletal syndrome 33May 23, 2025
Cerebroretinal microangiopathy with calcifications and cysts 114Apr 30, 2026
Ceroid lipofuscinosis, neuronal, 6A1Jun 16, 2025
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Oct 27, 2023
Charcot-Marie-Tooth disease X-linked dominant 111Feb 3, 2026
Charcot-Marie-Tooth disease axonal type 2F2Feb 3, 2026
Charcot-Marie-Tooth disease axonal type 2K3Apr 30, 2026
Charcot-Marie-Tooth disease axonal type 2O1Mar 14, 2025
Charcot-Marie-Tooth disease axonal type 2P1Apr 30, 2026
Charcot-Marie-Tooth disease axonal type 2P-AR2Dec 12, 2025
Charcot-Marie-Tooth disease axonal type 2S11Apr 30, 2026
Charcot-Marie-Tooth disease axonal type 2T9Feb 3, 2026
Charcot-Marie-Tooth disease type 1B5Jan 27, 2026
Charcot-Marie-Tooth disease type 1C2Mar 14, 2025
Charcot-Marie-Tooth disease type 1F1May 2, 2025
Charcot-Marie-Tooth disease type 2A23Jun 16, 2025
Charcot-Marie-Tooth disease type 2B1Feb 3, 2026
Charcot-Marie-Tooth disease type 2D1May 23, 2025
Charcot-Marie-Tooth disease type 2Y1Mar 14, 2025
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease type 4A10Jun 24, 2025
Charcot-Marie-Tooth disease type 4B12Jun 16, 2025
Charcot-Marie-Tooth disease type 4B21Dec 26, 2023
Charcot-Marie-Tooth disease type 4C7Feb 3, 2026
Charcot-Marie-Tooth disease type 4D1Jun 29, 2024
Charcot-Marie-Tooth disease type 4F1Jan 27, 2026
Charcot-Marie-Tooth disease type 4H1Feb 3, 2026
Charcot-Marie-Tooth disease type 4J5Dec 12, 2025
Charcot-Marie-Tooth disease, axonal, IIa 2II1Dec 11, 2024
Charcot-Marie-Tooth disease, demyelinating, type 1G1Jan 27, 2026
Charcot-Marie-tooth disease, axonal, type 2DD1Jun 16, 2025
Charlevoix-Saguenay spastic ataxia59Feb 3, 2026
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2May 23, 2025
Chilton-Okur-Chung neurodevelopmental syndrome1Nov 11, 2024
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 10, 2022
Cholestanol storage disease22Apr 30, 2026
Cholestasis, intrahepatic, of pregnancy, 31Dec 12, 2025
Cholestasis, progressive familial intrahepatic, 41May 2, 2025
Cholesteryl ester storage disease7Apr 30, 2026
Chondrodysplasia punctata, brachytelephalangic, autosomal2Apr 30, 2026
Chopra-Amiel-Gordon syndrome1Dec 12, 2025
Choroideremia1Dec 9, 2025
Christianson syndrome1Apr 30, 2026
Chronic granulomatous disease25Apr 30, 2026
Chudley-McCullough syndrome1Nov 11, 2024
Chuvash polycythemia4May 23, 2025
Chédiak-Higashi syndrome5Jan 27, 2026
Ciliary dyskinesia, primary, 401Oct 13, 2022
Citrullinemia38Apr 30, 2026
Citrullinemia type I17Apr 30, 2026
Citrullinemia type II16Feb 3, 2026
Clark-Baraitser syndrome2Feb 3, 2026
Classic lissencephaly3Jan 27, 2026
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease67Apr 30, 2026
Cockayne syndrome38Apr 30, 2026
Coenzyme Q10 deficiency, primary, 16Apr 30, 2026
Coffin-Lowry syndrome2Jul 29, 2022
Coffin-Siris syndrome3Dec 12, 2025
Coffin-Siris syndrome 13Apr 30, 2026
Coffin-Siris syndrome 122Feb 3, 2026
Coffin-Siris syndrome 71May 23, 2025
Coffin-Siris syndrome 82Dec 11, 2024
Cohen syndrome54Apr 30, 2026
Cold-induced sweating syndrome4Feb 19, 2024
Collagen 6-related myopathy2Jul 15, 2022
Colorectal carcinoma2May 23, 2025
Combined PSAP deficiency1Mar 14, 2025
Combined deficiency of sialidase AND beta galactosidase13Feb 3, 2026
Combined immunodeficiency due to DOCK8 deficiency2Feb 19, 2024
Combined immunodeficiency due to MALT1 deficiency1Feb 3, 2026
Combined immunodeficiency due to STK4 deficiency1Apr 30, 2026
Combined immunodeficiency with skin granulomas1Nov 20, 2015
Combined malonic and methylmalonic acidemia17Apr 30, 2026
Combined molybdoflavoprotein enzyme deficiency9Feb 3, 2026
Combined oxidative phosphorylation defect type 112Oct 28, 2025
Combined oxidative phosphorylation defect type 173Apr 30, 2026
Combined oxidative phosphorylation defect type 207Apr 30, 2026
Combined oxidative phosphorylation defect type 244Oct 28, 2025
Combined oxidative phosphorylation defect type 261Jan 11, 2023
Combined oxidative phosphorylation defect type 72Jan 11, 2023
Combined oxidative phosphorylation deficiency 281Nov 14, 2023
Combined oxidative phosphorylation deficiency 322Jun 28, 2024
Combined oxidative phosphorylation deficiency 351Jun 24, 2025
Combined oxidative phosphorylation deficiency 361Feb 6, 2023
Combined oxidative phosphorylation deficiency 401Oct 27, 2023
Combined oxidative phosphorylation deficiency 444Jun 13, 2025
Combined oxidative phosphorylation deficiency 511Apr 30, 2026
Combined pituitary hormone deficiencies, genetic form17Dec 12, 2025
Common variable immunodeficiency5Feb 3, 2026
Complement component 3 deficiency1Dec 12, 2025
Complement component 6 deficiency3Feb 3, 2026
Complement component 7 deficiency2Apr 30, 2026
Complement component 9 deficiency1Apr 30, 2026
Complement component C1s deficiency3Apr 30, 2026
Complex cortical dysplasia with other brain malformations 13Aug 8, 2024
Complex cortical dysplasia with other brain malformations 21Jul 25, 2023
Cone-rod dystrophy 151Oct 28, 2025
Congenital adrenal hyperplasia130Feb 3, 2026
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Nov 11, 2024
Congenital afibrinogenemia3Apr 30, 2026
Congenital amegakaryocytic thrombocytopenia23Dec 12, 2025
Congenital bilateral aplasia of vas deferens from CFTR mutation17Apr 30, 2026
Congenital bile acid synthesis defect 27Dec 9, 2025
Congenital bile acid synthesis defect 61Aug 8, 2024
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1Feb 19, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Dec 26, 2023
Congenital central hypoventilation1Apr 30, 2026
Congenital contractures of the limbs and face, hypotonia, and developmental delay4Oct 28, 2025
Congenital defect of folate absorption3Oct 23, 2024
Congenital diarrhea 7 with exudative enteropathy1Feb 3, 2026
Congenital disorder of deglycosylation15Apr 30, 2026
Congenital disorder of deglycosylation 25Apr 30, 2026
Congenital disorder of glycosylation type 1E1Dec 11, 2024
Congenital disorder of glycosylation, type IIq2Feb 3, 2026
Congenital disorder of glycosylation, type iit1Feb 3, 2026
Congenital dyserythropoietic anemia, type I3Nov 11, 2024
Congenital dyserythropoietic anemia, type II12Apr 30, 2026
Congenital factor V deficiency6Apr 30, 2026
Congenital factor VII deficiency15Apr 30, 2026
Congenital generalized lipodystrophy3Apr 30, 2026
Congenital generalized lipodystrophy type 21Jan 27, 2026
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder4Jul 1, 2025
Congenital heart defects, multiple types, 22Oct 27, 2023
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)4May 2, 2025
Congenital hyperammonemia, type I44Apr 30, 2026
Congenital isolated adrenocorticotropic hormone deficiency4Apr 30, 2026
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type10Feb 3, 2026
Congenital lipoid adrenal hyperplasia due to STAR deficency15Apr 30, 2026
Congenital long QT syndrome1Mar 6, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome14Apr 30, 2026
Congenital multicore myopathy with external ophthalmoplegia17Apr 30, 2026
Congenital muscular dystrophy due to LMNA mutation1Nov 20, 2015
Congenital muscular hypertrophy-cerebral syndrome1May 17, 2023
Congenital myasthenic syndrome84Apr 30, 2026
Congenital myasthenic syndrome 191Nov 11, 2024
Congenital myasthenic syndrome 201Jan 27, 2026
Congenital myasthenic syndrome 2C1Nov 10, 2022
Congenital myopathy 185Apr 30, 2026
Congenital myopathy 22A, classic2Jun 16, 2025
Congenital myopathy 232Dec 11, 2024
Congenital myopathy 2c, severe infantile, autosomal dominant2Jul 9, 2024
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal dominant form3Oct 28, 2025
Congenital myotonia, autosomal recessive form49Apr 30, 2026
Congenital nonprogressive myopathy with Moebius and Robin sequences2Jan 26, 2024
Congenital prothrombin deficiency3Jun 24, 2025
Congenital secretory diarrhea, chloride type5May 23, 2025
Corneal dystrophy-perceptive deafness syndrome16Jan 27, 2026
Cornelia de Lange syndrome 15Apr 30, 2026
Cornelia de Lange syndrome 53Jan 26, 2024
Cortical dysplasia, complex, with other brain malformations 111Jun 29, 2024
Cortical dysplasia, complex, with other brain malformations 92Nov 14, 2023
Cortical dysplasia-focal epilepsy syndrome10Feb 3, 2026
Costello syndrome8Dec 9, 2025
Cowden syndrome22Apr 30, 2026
Cowden syndrome 11Dec 12, 2025
Cranioectodermal dysplasia 13May 2, 2025
Craniofrontonasal syndrome1May 13, 2020
Creatine transporter deficiency11Feb 3, 2026
Crigler-Najjar syndrome5Feb 3, 2026
Cryopyrin associated periodic syndrome1Jul 1, 2025
Cutaneous porphyria1Jul 25, 2023
Cutis laxa18Jan 27, 2026
Cutis laxa, autosomal recessive, type 1B6Dec 12, 2025
Cystic fibrosis649May 1, 2026
Cystic fibrosis-gastritis-megaloblastic anemia syndrome1May 19, 2021
Cystinosis29Oct 23, 2024
Cystinuria5Apr 30, 2026
D-2-hydroxyglutaric aciduria 12Jun 16, 2025
D-Glyceric aciduria2Jan 11, 2023
DCHS1-Related Disorders1Feb 3, 2026
DDX41-related hematologic malignancy predisposition syndrome1Sep 10, 2024
DGUOK-related disorder6Apr 30, 2026
DHX37-related disorder1Jun 29, 2024
DNA ligase IV deficiency7Oct 28, 2025
DNAAF4-Related Disorders1Dec 11, 2024
DPAGT1-congenital disorder of glycosylation2Mar 16, 2023
DST-related disorder1Apr 3, 2024
DYNC1H1-related disorder1Jun 21, 2023
DYRK1A-related intellectual disability syndrome2Nov 11, 2024
Danon disease1Jul 29, 2022
DeSanto-Shinawi syndrome due to WAC point mutation2Nov 14, 2023
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 19, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase11Dec 12, 2025
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase96Apr 30, 2026
Deficiency of acetyl-CoA acetyltransferase23May 2, 2025
Deficiency of adenosine deaminase 210Apr 30, 2026
Deficiency of alpha-mannosidase36Apr 30, 2026
Deficiency of aromatic-L-amino-acid decarboxylase21Apr 30, 2026
Deficiency of beta-ureidopropionase7Jul 1, 2025
Deficiency of butyryl-CoA dehydrogenase12Apr 30, 2026
Deficiency of butyrylcholinesterase19Apr 30, 2026
Deficiency of cytochrome-b5 reductase3Feb 3, 2026
Deficiency of galactokinase7Jul 1, 2025
Deficiency of guanidinoacetate methyltransferase20Apr 30, 2026
Deficiency of hyaluronoglucosaminidase1Mar 16, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase18Feb 3, 2026
Deficiency of iodide peroxidase12Apr 30, 2026
Deficiency of isobutyryl-CoA dehydrogenase1Apr 30, 2026
Deficiency of malonyl-CoA decarboxylase1Nov 11, 2024
Deficiency of ribose-5-phosphate isomerase4Feb 19, 2024
Deficiency of steroid 17-alpha-monooxygenase3Aug 25, 2023
Dent disease5Feb 3, 2026
Desbuquois dysplasia 14Jun 24, 2025
Desbuquois dysplasia 21Sep 11, 2024
Desmin-related myofibrillar myopathy2May 23, 2025
Desmosterolosis1Feb 14, 2025
Developmental and epileptic encephalopathy1Nov 10, 2022
Developmental and epileptic encephalopathy 891Apr 14, 2023
Developmental and epileptic encephalopathy 943Jun 24, 2025
Developmental and epileptic encephalopathy, 13Oct 23, 2024
Developmental and epileptic encephalopathy, 114Jan 27, 2026
Developmental and epileptic encephalopathy, 133Mar 14, 2025
Developmental and epileptic encephalopathy, 181Dec 12, 2025
Developmental and epileptic encephalopathy, 232Jan 27, 2026
Developmental and epileptic encephalopathy, 251Aug 25, 2023
Developmental and epileptic encephalopathy, 296Feb 3, 2026
Developmental and epileptic encephalopathy, 341Oct 28, 2025
Developmental and epileptic encephalopathy, 372Feb 3, 2026
Developmental and epileptic encephalopathy, 392Apr 30, 2026
Developmental and epileptic encephalopathy, 44Feb 3, 2026
Developmental and epileptic encephalopathy, 4218Apr 30, 2026
Developmental and epileptic encephalopathy, 482Jul 1, 2025
Developmental and epileptic encephalopathy, 491Jan 11, 2023
Developmental and epileptic encephalopathy, 53Feb 3, 2026
Developmental and epileptic encephalopathy, 512Dec 11, 2024
Developmental and epileptic encephalopathy, 541Aug 25, 2023
Developmental and epileptic encephalopathy, 561Sep 11, 2024
Developmental and epileptic encephalopathy, 701May 23, 2025
Developmental and epileptic encephalopathy, 742Oct 28, 2025
Developmental and epileptic encephalopathy, 751Apr 9, 2026
Developmental and epileptic encephalopathy, 772Jun 16, 2025
Developmental and epileptic encephalopathy, 802Jun 16, 2025
Developmental and epileptic encephalopathy, 841Jul 1, 2025
Developmental and epileptic encephalopathy, 91Feb 19, 2024
Developmental delay and seizures with or without movement abnormalities2Nov 11, 2024
Developmental delay with autism spectrum disorder and gait instability3Feb 3, 2026
Developmental delay with short stature, dysmorphic facial features, and sparse hair 13Apr 30, 2026
Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies1Feb 3, 2026
Developmental delay with variable intellectual impairment and behavioral abnormalities3Dec 12, 2025
Developmental delay with variable neurologic and brain abnormalities1Oct 27, 2023
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders2Feb 3, 2026
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Feb 3, 2026
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Apr 9, 2026
Developmental delay, impaired speech, and behavioral abnormalities3Dec 12, 2025
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jun 21, 2023
Diabetes mellitus, permanent neonatal 32Jan 27, 2026
Dias-Logan syndrome2Jun 29, 2024
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome6Feb 3, 2026
Dihydropteridine reductase deficiency14Dec 12, 2025
Dihydropyrimidinase deficiency6Feb 3, 2026
Dihydropyrimidine dehydrogenase deficiency36Apr 30, 2026
Distal arthrogryposis type 5D1Dec 11, 2024
Dominant beta-thalassemia7Jun 16, 2025
Donnai-Barrow syndrome6Feb 3, 2026
Dopa-responsive dystonia due to sepiapterin reductase deficiency5Apr 30, 2026
Dubin-Johnson syndrome10Jul 1, 2025
Dworschak-Punetha neurodevelopmental syndrome1Mar 14, 2025
Dyskeratosis congenita12Feb 3, 2026
Dystonia 301Feb 3, 2026
Dystonia 51May 2, 2025
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Mar 14, 2025
EEF1A2-related disorder1Feb 26, 2021
ELOVL4-related disorder3May 23, 2025
ENG-related disorder2Oct 27, 2023
ENPP1-related disorder4Apr 30, 2026
ERCC4-Related Disorders2Nov 11, 2024
ERF-related disorder3Sep 10, 2024
Early Infantile Epileptic Encephalopathy, Autosomal Recessive3Dec 9, 2025
Early-onset coronary artery disease9Apr 30, 2026
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome6Jun 16, 2025
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Feb 3, 2026
Ectodermal dysplasia and immunodeficiency 14Jan 25, 2018
Ectopia lentis 2, isolated, autosomal recessive1Apr 30, 2026
Ehlers-Danlos syndrome11Jan 27, 2026
Ehlers-Danlos syndrome due to tenascin-X deficiency27Apr 30, 2026
Ehlers-Danlos syndrome, cardiac valvular type9Apr 30, 2026
Ehlers-Danlos syndrome, classic type, 16Apr 30, 2026
Ehlers-Danlos syndrome, classic-like, 24Apr 30, 2026
Ehlers-Danlos syndrome, dermatosparaxis type7Dec 9, 2025
Ehlers-Danlos syndrome, kyphoscoliotic type 19Apr 30, 2026
Ehlers-Danlos syndrome, kyphoscoliotic type, 23Feb 3, 2026
Ehlers-Danlos syndrome, musculocontractural type4Apr 30, 2026
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 26, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 22Jan 27, 2026
Ehlers-Danlos syndrome, type 414Apr 30, 2026
Eichsfeld type congenital muscular dystrophy27Apr 30, 2026
El Hayek-Chahrour neurodevelopmental disorder2Nov 11, 2024
Elliptocytosis 21Apr 19, 2022
Ellis-van Creveld syndrome23Apr 30, 2026
Emery-Dreifuss muscular dystrophy5Feb 3, 2026
Emery-Dreifuss muscular dystrophy 1, X-linked2Apr 30, 2026
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 13, 2022
Emery-Dreifuss muscular dystrophy 4, autosomal dominant6Jun 29, 2024
Encephalopathy due to GLUT1 deficiency6Feb 3, 2026
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Feb 3, 2026
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12Apr 30, 2026
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Jun 21, 2023
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome5Jun 16, 2025
Enhanced S-cone syndrome1Dec 9, 2025
Enterokinase deficiency1Feb 3, 2026
Epidermolysis bullosa dystrophica5Jun 24, 2025
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency2May 2, 2025
Epidermolysis bullosa simplex 5C, with pyloric atresia1Jun 16, 2025
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1Dec 9, 2025
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2May 2, 2025
Epilepsy, familial adult myoclonic, 52May 23, 2025
Epilepsy, familial focal, with variable foci 19Feb 3, 2026
Epilepsy, familial focal, with variable foci 21May 23, 2025
Epilepsy, familial focal, with variable foci 32Apr 14, 2023
Epilepsy, progressive myoclonic, 1B1Dec 26, 2023
Epiphyseal dysplasia, multiple, 22Dec 12, 2025
Epiphyseal dysplasia, multiple, 31Jun 24, 2025
Episodic ataxia type 12Oct 28, 2025
Episodic kinesigenic dyskinesia 15Apr 30, 2026
Ethylmalonic encephalopathy16Jun 24, 2025
FAM38B-related disorder1Jan 26, 2024
FARS2-related disorder6Apr 30, 2026
FDXR-related disorder1Feb 3, 2026
FGD1-related disorder1Dec 26, 2023
FGFR1-related disorder4Jun 16, 2025
FOXG1 disorder2Feb 3, 2026
FREM1-related disorder1Nov 11, 2024
Fabry disease173Apr 30, 2026
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome5Oct 28, 2025
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Dec 21, 2021
Factor I deficiency5Apr 30, 2026
Factor XIII, A subunit, deficiency of3Aug 8, 2024
Factor XIII, b subunit, deficiency of2Apr 30, 2026
Familial Atypical Hemolytic-Uremic Syndrome6May 23, 2025
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome1Apr 19, 2022
Familial Mediterranean fever25Jul 1, 2025
Familial Mediterranean fever, autosomal dominant1Jun 29, 2024
Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus2Jun 16, 2025
Familial X-linked hypophosphatemic vitamin D refractory rickets46Apr 30, 2026
Familial adenomatous polyposis 248Apr 30, 2026
Familial aortopathy74Apr 30, 2026
Familial cancer of breast30May 13, 2020
Familial dysautonomia21Apr 30, 2026
Familial dysfibrinogenemia19Apr 30, 2026
Familial ectopia lentis4Mar 14, 2025
Familial exudative vitreoretinopathy3Jan 27, 2026
Familial hemophagocytic lymphohistiocytosis78Apr 30, 2026
Familial hypercholesterolemia297Apr 30, 2026
Familial hyperinsulinism87Apr 30, 2026
Familial hyperthyroidism due to mutations in TSH receptor1Aug 8, 2024
Familial hypoaldosteronism1Oct 2, 2023
Familial hypoalphalipoproteinemia1Jun 13, 2025
Familial hypobetalipoproteinemia 14Apr 30, 2026
Familial hypocalciuric hypercalcemia76Apr 30, 2026
Familial hypokalemia-hypomagnesemia49Apr 30, 2026
Familial hypoparathyroidism5Feb 3, 2026
Familial isolated arrhythmogenic right ventricular dysplasia51Apr 30, 2026
Familial isolated deficiency of vitamin E10Jan 27, 2026
Familial melanoma17Feb 3, 2026
Familial multiple polyposis syndrome127Apr 30, 2026
Familial partial lipodystrophy, Dunnigan type2Nov 11, 2024
Familial prostate cancer16Apr 30, 2026
Familial spontaneous pneumothorax3Apr 24, 2019
Familial temporal lobe epilepsy 71May 17, 2023
Familial thoracic aortic aneurysm and aortic dissection7Apr 30, 2026
Fanconi anemia119Apr 30, 2026
Fanconi anemia complementation group C34Apr 30, 2026
Fanconi anemia complementation group J20Apr 30, 2026
Fanconi anemia complementation group O1Dec 11, 2024
Fanconi-Bickel syndrome3Jun 24, 2025
Farber lipogranulomatosis1Feb 3, 2026
Fatal infantile hypertonic myofibrillar myopathy1Apr 30, 2026
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 34Oct 23, 2024
Feingold syndrome type 11May 2, 2025
Filippi syndrome1Jan 26, 2024
Finnish congenital nephrotic syndrome70Apr 30, 2026
Floating-Harbor syndrome2Dec 9, 2025
Focal segmental glomerulosclerosis 94Jan 27, 2026
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome5Jun 24, 2025
Fraser syndrome 124Apr 30, 2026
Friedreich ataxia 13Jun 16, 2025
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Apr 3, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Mar 14, 2025
Frontotemporal dementia and/or amyotrophic lateral sclerosis 43Apr 30, 2026
Fructose-biphosphatase deficiency8Oct 28, 2025
Fucosidosis13Feb 3, 2026
Fumarase deficiency8Apr 30, 2026
G6PD deficiency20Feb 3, 2026
GABRD-Related Disorders1Dec 12, 2025
GATA2-related disorder1Mar 14, 2025
GBE1-related disorder1Jul 25, 2023
GDF5-related disorder1Feb 3, 2026
GEMIN5-related disorder3Apr 9, 2026
GLE1-related disorder1Sep 11, 2024
GLI2-related disorder3Feb 3, 2026
GM1 gangliosidosis34Apr 9, 2026
GM1 gangliosidosis type 21Oct 28, 2025
GM3 synthase deficiency6Apr 30, 2026
GMPPB-related disorder5Nov 11, 2024
GNAO1-related disorder1Dec 12, 2025
GNAS-related disorder1Feb 19, 2024
GNB5-related disorder3Jun 16, 2025
GNE myopathy43Apr 30, 2026
GNPTG-mucolipidosis3Feb 3, 2026
GOSR2-related disorder2Oct 28, 2025
GRACILE syndrome17Apr 30, 2026
GRHL2-related disorder1Oct 28, 2025
GRN-related disorder1Dec 26, 2023
GTP cyclohydrolase I deficiency3Apr 30, 2026
Galactosylceramide beta-galactosidase deficiency62Apr 30, 2026
Galloway-Mowat syndrome 12Jun 24, 2025
Galloway-Mowat syndrome 33Dec 11, 2024
Gamma-aminobutyric acid transaminase deficiency1Sep 11, 2024
Gastrointestinal defect and immunodeficiency syndrome7May 17, 2023
Gaucher disease95Apr 30, 2026
Gaze palsy, familial horizontal, with progressive scoliosis 12May 2, 2025
Geleophysic dysplasia1Sep 11, 2024
Generalized epilepsy with febrile seizures plus2Nov 20, 2015
Generalized epilepsy with febrile seizures plus, type 23May 1, 2026
Generalized epilepsy with febrile seizures plus, type 91Feb 3, 2026
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Genetic hearing loss3Jan 27, 2026
Genitourinary and/or brain malformation syndrome1Jul 9, 2024
Ghosal hematodiaphyseal dysplasia4Dec 9, 2025
Giant axonal neuropathy 12Feb 3, 2026
Glanzmann thrombasthenia 18Apr 30, 2026
Glanzmann thrombasthenia 215Apr 30, 2026
Glaucoma 1, open angle, A1Feb 3, 2026
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome2Jun 29, 2024
Global developmental delay with speech and behavioral abnormalities3Apr 30, 2026
Glucocorticoid deficiency 12Feb 14, 2025
Glucocorticoid deficiency with achalasia15Feb 3, 2026
Glucose-6-phosphate transport defect32Dec 11, 2024
Glutamate formiminotransferase deficiency3Jun 24, 2025
Glutamate pyruvate transaminase 2 deficiency2Apr 30, 2026
Glutaric aciduria, type 183Feb 3, 2026
Glutaryl-CoA oxidase deficiency2Nov 14, 2023
Glutathione synthetase deficiency with 5-oxoprolinuria7Feb 3, 2026
Glycine encephalopathy85Apr 30, 2026
Glycogen phosphorylase kinase deficiency29Apr 30, 2026
Glycogen storage disease IIIa8May 2, 2025
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease IXa12Feb 3, 2026
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA40Apr 30, 2026
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1Apr 30, 2026
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Apr 14, 2023
Glycogen storage disease type III43Jan 27, 2026
Glycogen storage disease type X2Oct 27, 2023
Glycogen storage disease, type II189Apr 30, 2026
Glycogen storage disease, type IV23Feb 3, 2026
Glycogen storage disease, type V34Apr 30, 2026
Glycogen storage disease, type VI7May 23, 2025
Glycogen storage disease, type VII4Nov 11, 2024
Glycogen storage disorder due to hepatic glycogen synthase deficiency7Jul 1, 2025
Glycosylphosphatidylinositol biosynthesis defect 151Sep 10, 2024
Glycosylphosphatidylinositol biosynthesis defect 182Apr 30, 2026
Goldberg-Shprintzen syndrome1Jun 24, 2025
Gonadotropin-independent familial sexual precocity4Oct 28, 2025
Gorlin syndrome6Jan 27, 2026
Granulomatous disease, chronic, X-linked27Apr 30, 2026
Gray platelet syndrome1Mar 14, 2025
Grebe syndrome1Mar 14, 2025
Griscelli syndrome type 22Sep 14, 2022
Growth delay due to insulin-like growth factor I resistance5Dec 12, 2025
Growth hormone insensitivity syndrome7Oct 28, 2025
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Oct 27, 2023
H syndrome1Nov 11, 2024
HESX1-Related Disorders2Feb 3, 2026
HNMT-Related Disorders1Jul 9, 2024
HOXD13-related disorder1Dec 26, 2023
HPRT1-related disorder2Jan 26, 2024
HTRA1-related cerebral small vessel disease3Oct 23, 2024
HTRA2-Related Disorders1Jun 24, 2025
Hao-Fountain syndrome1Dec 12, 2025
Harel-Yoon syndrome3Nov 11, 2024
Hb SS disease1Mar 6, 2020
Hearing loss, autosomal recessive 1061Feb 14, 2025
Hearing loss, autosomal recessive 1111Jul 29, 2022
Heart and brain malformation syndrome1Jan 26, 2024
Heimler syndrome 12Jun 24, 2025
Hemochromatosis type 18Feb 3, 2026
Hemochromatosis type 2A12Jul 1, 2025
Hemochromatosis type 2B1Oct 28, 2025
Hemochromatosis type 34Jul 1, 2025
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy45Apr 30, 2026
Hemolytic anemia due to glucophosphate isomerase deficiency2Sep 10, 2024
Hemolytic anemia due to hexokinase deficiency2Dec 9, 2025
Hennekam lymphangiectasia-lymphedema syndrome 11May 23, 2025
Hepatic methionine adenosyltransferase deficiency9Apr 30, 2026
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 15, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 110Apr 30, 2026
Hereditary acrodermatitis enteropathica4Jun 24, 2025
Hereditary antithrombin deficiency4Jun 24, 2025
Hereditary breast ovarian cancer syndrome1787Apr 30, 2026
Hereditary cancer-predisposing syndrome10Apr 30, 2026
Hereditary coproporphyria1May 17, 2023
Hereditary diffuse gastric adenocarcinoma22Apr 30, 2026
Hereditary episodic ataxia4May 23, 2025
Hereditary factor IX deficiency disease49Apr 30, 2026
Hereditary factor VIII deficiency disease101Apr 30, 2026
Hereditary factor XI deficiency disease21Apr 30, 2026
Hereditary fructosuria21Jun 16, 2025
Hereditary hemorrhagic telangiectasia1Oct 23, 2024
Hereditary insensitivity to pain with anhidrosis15Mar 14, 2025
Hereditary leiomyomatosis and renal cell cancer19Dec 12, 2025
Hereditary nonpolyposis colon cancer500Apr 30, 2026
Hereditary pancreatitis25Feb 3, 2026
Hereditary pheochromocytoma and paraganglioma42Apr 30, 2026
Hereditary spastic paraplegia57Apr 30, 2026
Hereditary spastic paraplegia 116Apr 30, 2026
Hereditary spastic paraplegia 121Apr 24, 2019
Hereditary spastic paraplegia 153Jun 16, 2025
Hereditary spastic paraplegia 21Dec 26, 2023
Hereditary spastic paraplegia 261Jul 25, 2023
Hereditary spastic paraplegia 304Feb 3, 2026
Hereditary spastic paraplegia 356Feb 3, 2026
Hereditary spastic paraplegia 3A2Jul 25, 2023
Hereditary spastic paraplegia 415Jan 27, 2026
Hereditary spastic paraplegia 451Jul 15, 2022
Hereditary spastic paraplegia 465Oct 28, 2025
Hereditary spastic paraplegia 472Jan 27, 2026
Hereditary spastic paraplegia 483Feb 3, 2026
Hereditary spastic paraplegia 491Jul 1, 2025
Hereditary spastic paraplegia 502Jan 27, 2026
Hereditary spastic paraplegia 511Feb 14, 2025
Hereditary spastic paraplegia 542Jul 25, 2023
Hereditary spastic paraplegia 561Mar 14, 2025
Hereditary spastic paraplegia 725Jul 1, 2025
Hereditary spastic paraplegia 751May 23, 2025
Hereditary spherocytosis type 12May 23, 2025
Hereditary spherocytosis type 51Apr 30, 2026
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX13Feb 3, 2026
Hereditary von Willebrand disease27Jan 26, 2024
Hermansky-Pudlak syndrome50Apr 30, 2026
Heterotaxy, visceral, 8, autosomal2Dec 9, 2025
Hirschsprung disease, susceptibility to, 13May 23, 2025
Histiocytic medullary reticulosis5May 13, 2020
Holocarboxylase synthetase deficiency18Jan 27, 2026
Holoprosencephaly 51Apr 14, 2023
Holt-Oram syndrome2Jan 26, 2024
Homocystinuria73Jan 27, 2026
Homocystinuria due to methylene tetrahydrofolate reductase deficiency21Apr 30, 2026
Houge-Janssens syndrome 12Jan 26, 2024
Hurler syndrome2Jan 27, 2026
Hyaline fibromatosis syndrome3Oct 2, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 12Feb 3, 2026
Hydrocephalus, nonsyndromic, autosomal recessive 25Feb 3, 2026
Hyper-IgE recurrent infection syndrome 1, autosomal dominant13Feb 14, 2025
Hyper-IgE syndrome2Jan 25, 2018
Hyper-IgM syndrome type 16Jun 13, 2025
Hyper-IgM syndrome type 27Jul 1, 2025
Hyper-IgM syndrome type 34Apr 30, 2026
Hyper-IgM syndrome type 52Aug 18, 2011
Hyperammonemia, type III5Apr 30, 2026
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2Aug 8, 2024
Hypercalcemia, infantile, 16Jul 1, 2025
Hypercholesterolemia, autosomal dominant, type B1Apr 30, 2026
Hypercholesterolemia, familial, 112Aug 18, 2011
Hyperimmunoglobulin D with periodic fever5Feb 3, 2026
Hyperimmunoglobulin M syndrome1Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 112Oct 27, 2023
Hyperinsulinism due to INSR deficiency1Jun 24, 2025
Hyperkalemic periodic paralysis3Apr 30, 2026
Hyperlipoproteinemia1Oct 28, 2025
Hyperlipoproteinemia, type I17Dec 12, 2025
Hyperlysinemia6Apr 30, 2026
Hypermanganesemia with dystonia 21Jun 21, 2023
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Jul 25, 2023
Hyperornithinemia15Apr 30, 2026
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome10Apr 30, 2026
Hyperphenylalaninemia9Jan 25, 2018
Hyperphenylalaninemia due to DNAJC12 deficiency2Mar 14, 2025
Hyperphosphatasia with intellectual disability syndrome 23Sep 11, 2024
Hyperphosphatasia with intellectual disability syndrome 42May 2, 2025
Hyperproinsulinemia1Sep 14, 2022
Hyperprolinemia type 22Jun 29, 2024
Hypertrophic cardiomyopathy1Oct 28, 2025
Hypoalphalipoproteinemia, primary, 21Apr 30, 2026
Hypogonadotropic hypogonadism 1 with or without anosmia8Apr 30, 2026
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia1Feb 3, 2026
Hypogonadotropic hypogonadism 3 with or without anosmia5Feb 3, 2026
Hypogonadotropic hypogonadism 5 with or without anosmia5Oct 28, 2025
Hypogonadotropic hypogonadism 7 with or without anosmia8Sep 11, 2024
Hypogonadotropic hypogonadism 8 with or without anosmia1Nov 14, 2023
Hypohidrotic X-linked ectodermal dysplasia1Mar 11, 2022
Hypokalemic periodic paralysis1Dec 14, 2022
Hypokalemic periodic paralysis, type 11Oct 28, 2025
Hypokalemic periodic paralysis, type 21Apr 30, 2026
Hypokalemic tubulopathy and deafness1Jun 29, 2024
Hypomyelinating leukodystrophy 104Apr 30, 2026
Hypomyelinating leukodystrophy 121Aug 8, 2024
Hypomyelinating leukodystrophy 131Oct 23, 2024
Hypomyelinating leukodystrophy 24Apr 30, 2026
Hypomyelinating leukodystrophy 34Dec 11, 2024
Hypomyelinating leukodystrophy 62Aug 25, 2023
Hypomyelinating leukodystrophy 91Dec 11, 2024
Hypomyelination and Congenital Cataract3Feb 19, 2024
Hypoparathyroidism, deafness, renal disease syndrome1Mar 14, 2025
Hypophosphatasia147Apr 30, 2026
Hypothyroidism due to TSH receptor mutations16Oct 28, 2025
Hypotonia, ataxia, and delayed development syndrome1Nov 14, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Oct 28, 2025
Hypotonia, infantile, with psychomotor retardation and characteristic facies 26Feb 3, 2026
Hypotonia, infantile, with psychomotor retardation and characteristic facies 311May 1, 2026
Hypotrichosis 83Jun 24, 2025
IFN-gamma receptor 1 deficiency1Jan 25, 2018
IFT172-related disorder2Mar 14, 2025
IFT74-related disorder2Jan 27, 2026
IHH-Related Disorders1Feb 14, 2025
ITGA2B-related disorder2Jul 9, 2024
Ichthyosis linearis circumflexa6Jan 27, 2026
Ichthyosis vulgaris5Feb 3, 2026
Idiopathic basal ganglia calcification 14Mar 14, 2025
Idiopathic growth hormone deficiency6Sep 10, 2024
Idiopathic nephrotic syndrome9Dec 12, 2025
Imerslund-Grasbeck syndrome type 12Apr 30, 2026
Immunodeficiency 106, susceptibility to viral infections1Oct 2, 2023
Immunodeficiency 11b with atopic dermatitis1Feb 3, 2026
Immunodeficiency 231Feb 3, 2026
Immunodeficiency 351Jun 16, 2025
Immunodeficiency 451Apr 30, 2026
Immunodeficiency 641May 23, 2025
Immunodeficiency, common variable, 23Apr 30, 2026
Immunodeficiency, common variable, 71Aug 25, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 19Apr 30, 2026
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Apr 14, 2023
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 31, 2020
Incontinentia pigmenti syndrome4Apr 30, 2026
Infantile GM1 gangliosidosis3Apr 30, 2026
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly3Apr 30, 2026
Infantile epileptic dyskinetic encephalopathy11Apr 30, 2026
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 11, 2022
Infantile nephronophthisis1May 2, 2025
Infantile neuroaxonal dystrophy3Feb 3, 2026
Infantile onset spinocerebellar ataxia1Jun 29, 2024
Inherited glutathione synthetase deficiency7Apr 14, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Aug 30, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder 621Nov 10, 2022
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Feb 3, 2026
Intellectual developmental disorder with autism and speech delay1Jul 7, 2021
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Jan 27, 2026
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Apr 30, 2026
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Jul 1, 2025
Intellectual developmental disorder with dysmorphic facies and ptosis2Jan 26, 2024
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Jan 27, 2026
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Feb 3, 2026
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects1Mar 14, 2025
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 14, 2023
Intellectual developmental disorder with or without peripheral neuropathy1Jun 29, 2024
Intellectual developmental disorder with seizures and language delay3Oct 28, 2025
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy2Jun 24, 2025
Intellectual developmental disorder, X-linked, syndromic, Pilorge type1Dec 12, 2025
Intellectual developmental disorder, autosomal dominant 661Mar 14, 2025
Intellectual developmental disorder, autosomal recessive 671Mar 16, 2023
Intellectual developmental disorder, autosomal recessive 682Sep 10, 2024
Intellectual developmental disorder, autosomal recessive 692Sep 11, 2024
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly2Oct 23, 2024
Intellectual developmental disorder, autosomal recessive 813Feb 14, 2025
Intellectual disability, X-linked 12Apr 30, 2026
Intellectual disability, X-linked 1025Apr 30, 2026
Intellectual disability, X-linked 1041May 2, 2025
Intellectual disability, X-linked 1071Jul 29, 2022
Intellectual disability, X-linked 411May 12, 2022
Intellectual disability, X-linked 611Dec 12, 2025
Intellectual disability, X-linked 91Jun 21, 2023
Intellectual disability, X-linked 901May 23, 2025
Intellectual disability, X-linked 991Dec 14, 2022
Intellectual disability, X-linked syndromic, Turner type3Apr 30, 2026
Intellectual disability, X-linked, syndromic 331May 17, 2023
Intellectual disability, X-linked, syndromic, Bain type1Jul 29, 2022
Intellectual disability, X-linked, with or without seizures, ARX-related5Apr 30, 2026
Intellectual disability, autosomal dominant 131Mar 14, 2025
Intellectual disability, autosomal dominant 141Aug 30, 2022
Intellectual disability, autosomal dominant 241Apr 19, 2022
Intellectual disability, autosomal dominant 391Nov 14, 2023
Intellectual disability, autosomal dominant 401Jun 29, 2024
Intellectual disability, autosomal dominant 411Dec 9, 2025
Intellectual disability, autosomal dominant 431Nov 14, 2023
Intellectual disability, autosomal dominant 451Feb 19, 2024
Intellectual disability, autosomal dominant 461Apr 30, 2026
Intellectual disability, autosomal dominant 472Feb 14, 2025
Intellectual disability, autosomal dominant 53Jun 16, 2025
Intellectual disability, autosomal dominant 523Jan 27, 2026
Intellectual disability, autosomal dominant 531Nov 11, 2024
Intellectual disability, autosomal dominant 561Mar 14, 2025
Intellectual disability, autosomal dominant 62Jun 24, 2025
Intellectual disability, autosomal dominant 93Feb 3, 2026
Intellectual disability, autosomal recessive 136Dec 12, 2025
Intellectual disability, autosomal recessive 181Feb 9, 2021
Intellectual disability, autosomal recessive 273Dec 12, 2025
Intellectual disability, autosomal recessive 31Jan 27, 2026
Intellectual disability, autosomal recessive 342Jun 29, 2024
Intellectual disability, autosomal recessive 422Dec 12, 2025
Intellectual disability, autosomal recessive 432Jan 11, 2023
Intellectual disability, autosomal recessive 461Dec 31, 2020
Intellectual disability, autosomal recessive 537May 2, 2025
Intellectual disability, autosomal recessive 571Jun 29, 2024
Intellectual disability, autosomal recessive 584Apr 30, 2026
Intellectual disability, autosomal recessive 612Jun 16, 2025
Intellectual disability, autosomal recessive 656Feb 3, 2026
Intellectual disability, autosomal recessive 73Jan 27, 2026
Intellectual disability-epilepsy-extrapyramidal syndrome1Apr 30, 2026
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Oct 28, 2025
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 7, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome3May 23, 2025
Interferon gamma receptor deficiency6Aug 18, 2011
Interstitial lung disease due to ABCA3 deficiency20Apr 30, 2026
Intestinal hypomagnesemia 11Mar 14, 2025
Iodotyrosine deiodination defect3Jul 1, 2025
Isolated growth hormone deficiency, type 49Apr 30, 2026
Isolated thyroid-stimulating hormone deficiency1Aug 8, 2024
Isovaleryl-CoA dehydrogenase deficiency21Apr 30, 2026
Jervell and Lange-Nielsen syndrome5Apr 30, 2026
Johanson-Blizzard syndrome4Feb 3, 2026
Joubert syndrome 23Apr 30, 2026
Joubert syndrome 215Feb 3, 2026
Joubert syndrome 266Apr 30, 2026
Joubert syndrome 331Jan 26, 2024
Joubert syndrome 371Feb 3, 2026
Joubert syndrome 381Apr 19, 2022
Joubert syndrome 64Dec 9, 2025
Joubert syndrome and related disorders237Apr 30, 2026
Junctional epidermolysis bullosa46Apr 30, 2026
Junctional epidermolysis bullosa gravis of Herlitz11May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type3Mar 6, 2020
Juvenile hyaline fibromatosis2Jun 24, 2025
Juvenile polyposis syndrome11Oct 28, 2025
Juvenile retinoschisis11Feb 3, 2026
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1Mar 14, 2025
KARS1-related disorder1Dec 26, 2023
KAT6B-Related Spectrum Disorders1Dec 12, 2025
KBG syndrome5Jan 27, 2026
KCNH1-related disorder1Jun 24, 2025
KCNN2-related disorder1Oct 28, 2025
KCNQ2-Related Disorders5May 23, 2025
KIF5A-related disorder2Oct 23, 2024
KLF1-related disorder2Oct 28, 2025
KLHL7-related disorder1Aug 8, 2024
KRIT1-related disorder1Dec 26, 2023
Kabuki syndrome 13Mar 14, 2025
Kabuki syndrome 21Oct 2, 2023
Kartagener syndrome1Sep 11, 2024
Kleefstra syndrome 13Feb 3, 2026
Kleefstra syndrome 25Dec 9, 2025
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome6Mar 14, 2025
Knobloch syndrome 17Apr 30, 2026
Koolen-de Vries syndrome1Oct 13, 2022
L-2-hydroxyglutaric aciduria6Apr 30, 2026
L1 syndrome20Feb 3, 2026
LAMA2-related muscular dystrophy41Feb 3, 2026
LAMA5-related disorder1Dec 12, 2025
LARGE1-Related Disorders1Jun 16, 2025
LARS2-Related Disorders2Jun 16, 2025
LBR-related disorder1Feb 19, 2024
LCAT deficiency1Jul 9, 2024
LIPE-related familial partial lipodystrophy1Jan 26, 2024
LMNB1-related disorder1Jul 9, 2024
Lamb-Shaffer syndrome2Feb 3, 2026
Lamellar ichthyosis130Apr 30, 2026
Landau-Kleffner syndrome1May 19, 2021
Langer mesomelic dysplasia syndrome2Dec 9, 2025
Larsen syndrome1Sep 14, 2022
Laryngo-onycho-cutaneous syndrome1Jul 15, 2022
Leber congenital amaurosis134Apr 30, 2026
Left ventricular noncompaction1Apr 30, 2026
Legius syndrome2Jul 25, 2023
Leigh syndrome99Apr 30, 2026
Leri-Weill dyschondrosteosis6Jun 24, 2025
Lethal arthrogryposis-anterior horn cell disease syndrome2Nov 11, 2024
Lethal congenital contracture syndrome 112Dec 12, 2025
Lethal congenital contracture syndrome 22Jun 16, 2025
Lethal congenital contracture syndrome 91Jun 29, 2024
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2Jun 16, 2025
Lethal multiple pterygium syndrome14Apr 30, 2026
Lethal osteosclerotic bone dysplasia1Jun 13, 2025
Leukocyte adhesion deficiency type II2Apr 30, 2026
Leukodystrophy and acquired microcephaly with or without dystonia;1Jul 25, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome5Jul 9, 2024
Leukoencephalopathy with calcifications and cysts3Jun 29, 2024
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Dec 9, 2025
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome5Dec 11, 2024
Leydig cell agenesis3Feb 14, 2025
Li-Fraumeni syndrome44Apr 30, 2026
Lichtenstein-Knorr syndrome1Jan 6, 2022
Liddle syndrome 11Sep 14, 2022
Lipid proteinosis1Feb 3, 2026
Lipoic acid synthetase deficiency4Jul 1, 2025
Lipoyl transferase 1 deficiency1Jul 9, 2024
Lissencephaly 82Apr 30, 2026
Lissencephaly type 1 due to doublecortin gene mutation2Jun 24, 2025
Lissencephaly type 33May 23, 2025
Loeys-Dietz syndrome24Apr 30, 2026
Long QT syndrome68Apr 30, 2026
Long QT syndrome 15Sep 24, 2019
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency24Apr 30, 2026
Lung disease, immunodeficiency, and chromosome breakage syndrome;1Jul 9, 2024
Lymphatic malformation 62Mar 14, 2025
Lynch syndrome186May 13, 2020
Lysinuric protein intolerance9Dec 9, 2025
MADD-related disorder1Feb 3, 2026
MAPT-related disorder2Jun 16, 2025
MBD5 associated neurodevelopmental disorder1Apr 14, 2023
MECP2-related disorder1Aug 25, 2023
MED12-Related Disorders1Sep 14, 2022
MEDNIK syndrome1Jan 26, 2024
MEN2 phenotype: Unclassified8May 23, 2025
MFN2-related disorder2Mar 14, 2025
MHC class I deficiency2Jul 25, 2023
MHC class II deficiency12Oct 28, 2025
MIRAGE syndrome1Feb 3, 2026
MPI-congenital disorder of glycosylation5Apr 30, 2026
MPZ-related disorder4Feb 3, 2026
MTFMT-Related Disorders3May 23, 2025
MUSK-related disorder2Jun 24, 2025
MYH10-related neurodevelopmental disorder with congenital anomalies1May 23, 2025
MYH3-related disorder6Jan 27, 2026
MYO6-related disorder3Apr 30, 2026
MYO7A-related disorder3Jul 1, 2025
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Macrocephaly, dysmorphic facies, and psychomotor retardation2May 23, 2025
Macrocephaly-developmental delay syndrome5Feb 3, 2026
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Jul 1, 2025
Macrocephaly/megalencephaly syndrome, autosomal recessive1May 23, 2025
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss6Dec 12, 2025
Macrothrombocytopenia, isolated, 1, autosomal dominant3Dec 9, 2025
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Jan 11, 2023
Macular corneal dystrophy15Jan 27, 2026
Majeed syndrome1Jul 15, 2022
Malan overgrowth syndrome3Jun 24, 2025
Malignant hyperthermia of anesthesia24Apr 30, 2026
Malignant hyperthermia, susceptibility to, 11Feb 3, 2026
Malignant tumor of breast121Apr 30, 2026
Mandibuloacral dysplasia with type A lipodystrophy2Feb 3, 2026
Mandibulofacial dysostosis-microcephaly syndrome2Apr 30, 2026
Maple syrup urine disease58Apr 30, 2026
Maple syrup urine disease type 1A7Oct 23, 2024
Maple syrup urine disease type 1B13Mar 14, 2025
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections203Apr 30, 2026
Marfan syndrome77Dec 11, 2024
Marinesco-Sjögren syndrome5Jan 27, 2026
Maturity-onset diabetes of the young67May 1, 2026
Maturity-onset diabetes of the young type 119Nov 17, 2015
Maturity-onset diabetes of the young type 2124Apr 30, 2026
Maturity-onset diabetes of the young type 325Nov 17, 2015
Maturity-onset diabetes of the young type 48Aug 18, 2011
Maturity-onset diabetes of the young type 81Aug 18, 2011
Meckel syndrome, type 110Jan 27, 2026
Meckel syndrome, type 420May 23, 2025
Meckel syndrome, type 619Feb 3, 2026
Medium-chain acyl-coenzyme A dehydrogenase deficiency72Apr 30, 2026
Megaconial type congenital muscular dystrophy1Aug 25, 2023
Megacystis-Microcolon Hypoperistalsis Syndrome 11Dec 11, 2024
Megacystis-microcolon-intestinal hypoperistalsis syndrome 21Oct 23, 2024
Megalencephalic leukoencephalopathy with subcortical cysts15Feb 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2Jan 27, 2026
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Apr 30, 2026
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1Oct 23, 2024
Meier-Gorlin syndrome 31Sep 11, 2024
Meier-Gorlin syndrome 41May 17, 2023
Meier-Gorlin syndrome 71Oct 28, 2025
Melanoma, cutaneous malignant, susceptibility to, 81Jun 13, 2025
Menke-Hennekam syndrome1Aug 30, 2022
Menkes kinky-hair syndrome14Apr 30, 2026
Merosin deficient congenital muscular dystrophy7Feb 3, 2026
Metachromatic leukodystrophy106Apr 30, 2026
Metaphyseal anadysplasia 1, autosomal dominant1Jul 29, 2022
Metaphyseal chondrodysplasia, McKusick type78Apr 30, 2026
Methylcobalamin deficiency type cblE4Nov 11, 2024
Methylcobalamin deficiency type cblG9Apr 30, 2026
Methylcrotonyl-CoA carboxylase deficiency47Apr 30, 2026
Methylmalonic acidemia113Apr 30, 2026
Mevalonic aciduria7Apr 30, 2026
Microcephalic osteodysplastic primordial dwarfism type II6Dec 12, 2025
Microcephalic primordial dwarfism due to RTTN deficiency5Apr 30, 2026
Microcephalic primordial dwarfism, Alazami type6Feb 3, 2026
Microcephaly 14, primary, autosomal recessive2May 23, 2025
Microcephaly 16, primary, autosomal recessive1Sep 11, 2024
Microcephaly 17, primary, autosomal recessive2Dec 12, 2025
Microcephaly 18, primary, autosomal dominant1Feb 3, 2026
Microcephaly 20, primary, autosomal recessive3Jun 16, 2025
Microcephaly 21, primary, autosomal recessive2Oct 23, 2024
Microcephaly 3, primary, autosomal recessive2May 23, 2025
Microcephaly 6, primary, autosomal recessive3Feb 3, 2026
Microcephaly 7, primary, autosomal recessive1May 12, 2022
Microcephaly and chorioretinopathy 13Apr 30, 2026
Microcephaly and chorioretinopathy 31Nov 11, 2024
Microcephaly, developmental delay, and brittle hair syndrome1Oct 27, 2023
Microcephaly, epilepsy, and diabetes syndrome1Apr 30, 2026
Microcephaly, normal intelligence and immunodeficiency34Apr 30, 2026
Microcephaly, short stature, and limb abnormalities1May 12, 2022
Microcephaly-capillary malformation syndrome1Nov 14, 2023
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome8Jan 27, 2026
Microcephaly-thin corpus callosum-intellectual disability syndrome2Apr 30, 2026
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Feb 3, 2026
Microspherophakia1Jan 6, 2022
Miller syndrome1Aug 25, 2023
Mismatch repair cancer syndrome 11Mar 6, 2020
Mitochondrial DNA depletion syndrome60Apr 30, 2026
Mitochondrial DNA depletion syndrome 19Apr 30, 2026
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2Aug 25, 2023
Mitochondrial DNA depletion syndrome 132Mar 14, 2025
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)7May 23, 2025
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Jun 16, 2025
Mitochondrial DNA depletion syndrome 91Feb 3, 2026
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3Jan 27, 2026
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial complex I deficiency15May 23, 2025
Mitochondrial complex I deficiency, nuclear type 173Dec 11, 2024
Mitochondrial complex I deficiency, nuclear type 195Jun 16, 2025
Mitochondrial complex I deficiency, nuclear type 23Jan 27, 2026
Mitochondrial complex I deficiency, nuclear type 213Feb 14, 2025
Mitochondrial complex I deficiency, nuclear type 221Aug 30, 2022
Mitochondrial complex I deficiency, nuclear type 231Sep 11, 2024
Mitochondrial complex I deficiency, nuclear type 251Jul 15, 2022
Mitochondrial complex I deficiency, nuclear type 263Jan 27, 2026
Mitochondrial complex I deficiency, nuclear type 293Jan 27, 2026
Mitochondrial complex I deficiency, nuclear type 314Apr 30, 2026
Mitochondrial complex I deficiency, nuclear type 321Apr 19, 2022
Mitochondrial complex I deficiency, nuclear type 341Jun 17, 2021
Mitochondrial complex I deficiency, nuclear type 53Feb 3, 2026
Mitochondrial complex I deficiency, nuclear type 73Feb 3, 2026
Mitochondrial complex III deficiency nuclear type 22Jun 24, 2025
Mitochondrial complex III deficiency nuclear type 52Apr 30, 2026
Mitochondrial complex IV deficiency, nuclear type 13Jan 27, 2026
Mitochondrial complex IV deficiency, nuclear type 112Apr 30, 2026
Mitochondrial complex IV deficiency, nuclear type 171Jul 1, 2025
Mitochondrial complex IV deficiency, nuclear type 31Sep 11, 2024
Mitochondrial complex IV deficiency, nuclear type 42Jan 27, 2026
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 23Feb 3, 2026
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency2Jul 1, 2025
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Aug 8, 2024
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Feb 3, 2026
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency4Dec 9, 2025
Mitochondrial trifunctional protein deficiency18Feb 3, 2026
Mitochondrial trifunctional protein deficiency 21Oct 27, 2023
Monogenic diabetes74Apr 30, 2026
Morquio syndrome70Apr 30, 2026
Mosaic variegated aneuploidy syndrome 12Dec 11, 2024
Mowat-Wilson syndrome2Apr 30, 2026
Moyamoya disease with early-onset achalasia1Mar 14, 2025
Mucolipidosis36Jun 16, 2025
Mucolipidosis type II8Apr 30, 2026
Mucolipidosis type IV17Feb 3, 2026
Mucopolysaccharidosis type 176Apr 30, 2026
Mucopolysaccharidosis type 651Feb 3, 2026
Mucopolysaccharidosis type 722Jan 27, 2026
Mucopolysaccharidosis, MPS-II21Feb 3, 2026
Mucopolysaccharidosis, MPS-III-A34Apr 30, 2026
Mucopolysaccharidosis, MPS-III-B48Apr 30, 2026
Mucopolysaccharidosis, MPS-III-C2Apr 30, 2026
Mucopolysaccharidosis, MPS-III-D4Jun 16, 2025
Mucopolysaccharidosis, MPS-IV-B34Feb 3, 2026
Mulibrey nanism syndrome1Jul 1, 2025
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome1Nov 11, 2024
Multiple acyl-CoA dehydrogenase deficiency43Feb 3, 2026
Multiple congenital anomalies-hypotonia-seizures syndrome 110Apr 30, 2026
Multiple congenital anomalies-hypotonia-seizures syndrome 31Oct 23, 2024
Multiple congenital exostosis1May 23, 2025
Multiple endocrine neoplasia type 2A8Jun 21, 2023
Multiple endocrine neoplasia type 2B1Sep 1, 2021
Multiple endocrine neoplasia, type 174Apr 30, 2026
Multiple endocrine neoplasia, type 28Feb 3, 2026
Multiple mitochondrial dysfunctions syndrome 11Oct 27, 2023
Multiple mitochondrial dysfunctions syndrome 21Aug 25, 2023
Multiple mitochondrial dysfunctions syndrome 41Oct 2, 2023
Multiple mitochondrial dysfunctions syndrome 71Jan 27, 2026
Multiple sulfatase deficiency24Apr 30, 2026
Muscle AMP deaminase deficiency1May 23, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 413Feb 3, 2026
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71May 23, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Feb 14, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21Jan 27, 2026
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A33Dec 12, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Apr 30, 2026
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 103Jul 1, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 113Nov 11, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Feb 9, 2022
Myasthenic syndrome, congenital, 222Jul 9, 2024
Myoclonic dystonia 113Sep 11, 2024
Myoclonic epilepsy of Lafora 21Dec 11, 2024
Myofibrillar myopathy 31May 23, 2025
Myofibrillar myopathy 61May 23, 2025
Myofibrillar myopathy 71Oct 2, 2023
Myofibrillar myopathy 81Dec 12, 2025
Myopathy with abnormal lipid metabolism1Aug 8, 2024
Myopathy, RYR1-associated6Jun 13, 2025
Myopathy, centronuclear, 52Oct 23, 2024
Myopathy, distal, 52Apr 30, 2026
Myopathy, lactic acidosis, and sideroblastic anemia 12Dec 14, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 21Nov 14, 2023
Myopathy, myofibrillar, 9, with early respiratory failure1May 2, 2025
Myopathy, proximal, and ophthalmoplegia2Dec 26, 2023
NDE1-related disorder2Apr 30, 2026
NLRP3-related disorder1Jun 24, 2025
NOTCH3-related disorder5Nov 11, 2024
NPHP1-related disorder1Jun 29, 2024
NPR2-related disorder4May 23, 2025
NR3C2-related disorder2Sep 11, 2024
NUP14 Related Disorders2Nov 11, 2024
NUP214-related disorder1May 17, 2023
NUS1-related disorder2Dec 11, 2024
Nemaline myopathy108Apr 30, 2026
Neonatal diabetes mellitus16Nov 17, 2015
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome6Apr 30, 2026
Neonatal severe primary hyperparathyroidism9Apr 30, 2026
Nephrogenic diabetes insipidus25Oct 28, 2025
Nephronophthisis 131Dec 21, 2021
Nephronophthisis 153Feb 3, 2026
Nephronophthisis 31Dec 21, 2021
Nephronophthisis 41Mar 6, 2020
Nephronophthisis-like nephropathy 12Mar 14, 2025
Nephropathic cystinosis6Apr 30, 2026
Nephrotic syndrome 141Dec 11, 2024
Nephrotic syndrome 151Apr 30, 2026
Nephrotic syndrome, type 121Mar 14, 2025
Nephrotic syndrome, type 216Nov 16, 2021
Nephrotic syndrome, type 81May 23, 2025
Nephrotic syndrome, type 91Feb 19, 2024
Neurodegeneration with ataxia and late-onset optic atrophy10Jun 16, 2025
Neurodegeneration with brain iron accumulation67Feb 3, 2026
Neurodegeneration with brain iron accumulation 53Feb 3, 2026
Neurodegeneration, childhood-onset, with progressive microcephaly1Apr 30, 2026
Neurodegeneration, infantile-onset, biotin-responsive3Feb 3, 2026
Neurodevelopmental disorder1Mar 6, 2020
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Apr 14, 2023
Neurodevelopmental disorder with absent language and variable seizures2Jun 21, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures6Mar 14, 2025
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Feb 14, 2025
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Apr 30, 2026
Neurodevelopmental disorder with dysmorphic facies and variable seizures1Feb 3, 2026
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities2Jun 16, 2025
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures1Jul 9, 2024
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Nov 14, 2023
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1May 17, 2023
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language2Oct 28, 2025
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3Apr 30, 2026
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1Feb 3, 2026
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies3Jun 16, 2025
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1Jul 9, 2024
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment1May 2, 2025
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy2Oct 23, 2024
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination1Oct 23, 2024
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2May 2, 2025
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy1May 23, 2025
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy4Jun 16, 2025
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities1Feb 3, 2026
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 14, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Jun 24, 2025
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Dec 12, 2025
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2Jul 1, 2025
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Oct 23, 2024
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies1May 2, 2025
Neurodevelopmental disorder with seizures and gingival overgrowth1Feb 14, 2025
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1Feb 19, 2024
Neurodevelopmental disorder with speech delay and variable ocular anomalies1Dec 26, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Aug 8, 2024
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus1Feb 3, 2026
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities3Feb 3, 2026
Neurofibromatosis, type 185Apr 30, 2026
Neurofibromatosis, type 24Jul 1, 2025
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin227Apr 30, 2026
Neuronal ceroid lipofuscinosis149Apr 30, 2026
Neuronal ceroid lipofuscinosis 14Mar 6, 2020
Neuronal ceroid lipofuscinosis 22Apr 30, 2026
Neuronal ceroid lipofuscinosis 35Mar 6, 2020
Neuronal ceroid lipofuscinosis 51Mar 6, 2020
Neuronal ceroid lipofuscinosis 71Apr 30, 2026
Neuronal ceroid lipofuscinosis 86Apr 30, 2026
Neuronopathy, distal hereditary motor, autosomal recessive 47Apr 30, 2026
Neuronopathy, distal hereditary motor, autosomal recessive 52Oct 28, 2025
Neuronopathy, distal hereditary motor, autosomal recessive 71Apr 30, 2026
Neuronopathy, distal hereditary motor, autosomal recessive 81Dec 21, 2021
Neuropathy, congenital hypomyelinating, 34May 2, 2025
Neuropathy, hereditary sensory and autonomic, type 1A1Oct 28, 2025
Neuropathy, hereditary sensory and autonomic, type 2A1Oct 28, 2025
Neuropathy, hereditary sensory and autonomic, type 2B1Oct 2, 2023
Neuropathy, hereditary sensory, type 2C1Oct 6, 2020
Neutral 1 amino acid transport defect7Jun 16, 2025
Neutral lipid storage myopathy1Oct 27, 2023
Neutropenia, severe congenital, 1, autosomal dominant1Jun 24, 2025
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A22Apr 30, 2026
Niemann-Pick disease, type B9Feb 3, 2026
Niemann-Pick disease, type C114Apr 30, 2026
Niemann-Pick disease, type C16Jan 27, 2026
Nijmegen breakage syndrome-like disorder3Apr 30, 2026
Nizon-Isidor syndrome1Jun 24, 2025
Non-syndromic X-linked intellectual disability2Oct 28, 2025
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections1Mar 14, 2025
Nonsyndromic genetic hearing loss93May 1, 2026
Noonan syndrome6Apr 30, 2026
Noonan syndrome 216Apr 30, 2026
Noonan syndrome 319Sep 24, 2019
Noonan syndrome with multiple lentigines6Jun 24, 2025
Noonan syndrome-like disorder with loose anagen hair3Jul 1, 2025
O'Donnell-Luria-Rodan syndrome3Oct 27, 2023
OPA1-Related Disorders Autosomal Recessive1Apr 30, 2026
OPA1-related disorder5Jun 24, 2025
OPTN-related disorder2Feb 3, 2026
Obesity10Nov 17, 2015
Occipital pachygyria and polymicrogyria4Dec 12, 2025
Ocular albinism, type I2Oct 28, 2025
Oculocerebrofacial syndrome, Kaufman type1Apr 30, 2026
Oculocutaneous albinism98Apr 30, 2026
Oculocutaneous albinism type 33Jul 1, 2025
Oculocutaneous albinism type 414Jun 24, 2025
Oculocutaneous albinism type 81Jun 29, 2024
Odonto-onycho-dermal dysplasia4Jun 16, 2025
Okur-Chung neurodevelopmental syndrome2Feb 3, 2026
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1Aug 25, 2023
Ornithine carbamoyltransferase deficiency27Oct 28, 2025
Orofaciodigital syndrome I4May 2, 2025
Orofaciodigital syndrome V1Feb 3, 2026
Orofaciodigital syndrome type 146Jan 27, 2026
Orofaciodigital syndrome type 62May 23, 2025
Oroticaciduria1Jun 29, 2024
Orthostatic hypotension 11Jan 26, 2024
Osteochondrodysplasia13Feb 3, 2026
Osteogenesis imperfecta114Apr 30, 2026
Osteogenesis imperfecta type 52Nov 11, 2024
Osteogenesis imperfecta type I18Apr 30, 2026
Osteopetrosis15Feb 3, 2026
Osteopetrosis with renal tubular acidosis1Jan 26, 2024
Osteoporosis3Jan 27, 2026
Osteoporosis with pseudoglioma2Oct 2, 2023
Otofaciocervical syndrome 21Jul 9, 2024
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Apr 30, 2026
Otospondylomegaepiphyseal dysplasia, autosomal recessive1Feb 3, 2026
PALB2-related disorder1Feb 9, 2022
PARN-related disorder1May 23, 2025
PAX2-Related Disorder2Feb 19, 2024
PAX6-related disorder1Jul 1, 2025
PDE8B-Related Disorders1Jun 29, 2024
PDX1-related disorder1Jun 21, 2023
PDZD7-related disorder1Mar 16, 2023
PEX5-related disorder1Aug 8, 2024
PGM1-congenital disorder of glycosylation3May 23, 2025
PHARC syndrome1Feb 19, 2024
PHGDH deficiency11May 23, 2025
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Dec 9, 2025
PI4KA-related disorder3Apr 30, 2026
PIEZO2-related disorder4Feb 19, 2024
PIK3CA related overgrowth syndrome3May 2, 2025
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease26Jan 27, 2026
PLEC-related disorder1May 17, 2023
PMM2-congenital disorder of glycosylation72Feb 3, 2026
PNKP-related disorder5May 23, 2025
PNPLA6-related disorder2Jun 21, 2023
PNPT1-related disorder6Feb 3, 2026
POLG-related disorder25Feb 3, 2026
POLG2-related disorder2Oct 2, 2023
POLR-related leukodystrophy11Jan 27, 2026
POLR1C-related disorder4Dec 9, 2025
PPARG-related disorder2Dec 12, 2025
PRNP-related disorder2Feb 19, 2024
PROM1-related disorder2Dec 9, 2025
PRPH2-related disorder2Apr 30, 2026
PRX-related disorder2Sep 11, 2024
PSAT1-related disorder6Dec 9, 2025
PSMD11-Related Disorders1Jun 16, 2025
PTEN hamartoma tumor syndrome2Mar 14, 2025
PTPN4-related disorder1May 23, 2025
PUM1-related disorder1Dec 26, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 6, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Pan-Chung-Bellen syndrome1Jan 27, 2026
Pancreatic agenesis 11Jan 27, 2026
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Mar 16, 2023
Pancytopenia-developmental delay syndrome1May 23, 2025
Papillon-Lefèvre syndrome8Jul 1, 2025
Parathyroid carcinoma3Dec 9, 2025
Parietal foramina 21Jul 15, 2022
Parkinsonian-pyramidal syndrome1Jun 16, 2025
Parkinsonism-dystonia, infantile1Dec 12, 2025
Pelizaeus-Merzbacher disease5Feb 3, 2026
Pendred syndrome100Apr 30, 2026
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3Feb 3, 2026
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1Dec 12, 2025
Periventricular nodular heterotopia4Nov 11, 2024
Periventricular nodular heterotopia 61Jul 15, 2022
Periventricular nodular heterotopia 91Jan 11, 2023
Perlman syndrome1Mar 14, 2025
Permanent neonatal diabetes mellitus8Oct 28, 2025
Peroxisome biogenesis disorder136Feb 3, 2026
Perrault syndrome 21May 2, 2025
Persistent Mullerian duct syndrome7Feb 3, 2026
Peters plus syndrome2Jul 15, 2022
Pettigrew syndrome1Jul 9, 2024
Peutz-Jeghers syndrome16May 24, 2025
Phelan-McDermid syndrome2Apr 30, 2026
Phenylketonuria236Apr 30, 2026
Pheochromocytoma2Feb 9, 2022
Phytanic acid storage disease3Oct 28, 2025
Pierson syndrome2Oct 23, 2024
Pigmentary pallidal degeneration26Apr 30, 2026
Pigmentary retinal dystrophy4Mar 14, 2025
Pilarowski-Bjornsson syndrome2May 23, 2025
Pili torti-deafness syndrome4Dec 12, 2025
Pili torti-developmental delay-neurological abnormalities syndrome1Sep 14, 2022
Pitt-Hopkins syndrome1Mar 16, 2023
Pitt-Hopkins-like syndrome 24Feb 3, 2026
Plasminogen deficiency, type I1Jan 26, 2024
Platelet-activating factor acetylhydrolase deficiency2Mar 14, 2025
Platelet-type bleeding disorder 152Feb 3, 2026
Poikiloderma with neutropenia1Jun 29, 2024
Poirier-Bienvenu neurodevelopmental syndrome1Jan 11, 2023
Polycystic kidney disease 240Apr 30, 2026
Polycystic kidney disease, adult type249Apr 30, 2026
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21Jan 27, 2026
Polycystic liver disease 11Apr 30, 2026
Polydactyly, postaxial, type a101Feb 14, 2025
Polyglandular autoimmune syndrome, type 129Feb 3, 2026
Polyglucosan body myopathy type 11Oct 2, 2023
Polyglucosan body myopathy type 26Feb 3, 2026
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome12Apr 30, 2026
Pontocerebellar hypoplasia type 31Jun 21, 2023
Pontocerebellar hypoplasia, type 1D2Dec 11, 2024
Pontoneocerebellar hypoplasia60Apr 30, 2026
Porokeratosis 3, disseminated superficial actinic type1Apr 30, 2026
Portal hypertension, noncirrhotic, 21Feb 19, 2024
Posterior column ataxia-retinitis pigmentosa syndrome2Oct 27, 2023
Precocious puberty, central, 21Dec 9, 2025
Pretibial dystrophic epidermolysis bullosa2Mar 14, 2025
Primary CD59 deficiency1Apr 30, 2026
Primary ciliary dyskinesia 144Apr 30, 2026
Primary ciliary dyskinesia 171Jun 29, 2024
Primary ciliary dyskinesia 22Dec 9, 2025
Primary ciliary dyskinesia 231Sep 10, 2024
Primary ciliary dyskinesia 38Jan 27, 2026
Primary ciliary dyskinesia 51May 2, 2025
Primary ciliary dyskinesia 716Apr 30, 2026
Primary ciliary dyskinesia 92Jul 1, 2025
Primary congenital glaucoma35Apr 30, 2026
Primary dilated cardiomyopathy6Nov 20, 2015
Primary erythromelalgia1Apr 30, 2026
Primary familial dilated cardiomyopathy114Apr 30, 2026
Primary familial hypertrophic cardiomyopathy107Apr 30, 2026
Primary hyperoxaluria50Apr 30, 2026
Primary hyperoxaluria type 39Oct 23, 2024
Primary hyperoxaluria, type II10Jul 1, 2025
Primary hypomagnesemia1Oct 28, 2025
Primrose syndrome1Feb 3, 2026
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 34Sep 11, 2024
Progressive familial intrahepatic cholestasis60Apr 30, 2026
Progressive familial intrahepatic cholestasis type 18Apr 30, 2026
Progressive myoclonic epilepsy type 32Jul 1, 2025
Progressive myoclonic epilepsy type 71Oct 27, 2023
Progressive pseudorheumatoid dysplasia11Jul 1, 2025
Prolidase deficiency4Feb 3, 2026
Proline dehydrogenase deficiency2Dec 26, 2023
Propionic acidemia86Apr 30, 2026
Proteasome-associated autoinflammatory syndrome 11Oct 13, 2022
Protoporphyria, erythropoietic, 11Jul 25, 2023
Proximal myopathy with extrapyramidal signs3Jul 9, 2024
Pseudo von Willebrand disease1Apr 30, 2026
Pseudo-Hurler polydystrophy4Oct 28, 2025
Pseudo-TORCH syndrome 21Jun 21, 2023
Pseudoxanthoma elasticum2Feb 14, 2025
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome1May 23, 2025
Pyknodysostosis10May 2, 2025
Pyridoxal phosphate-responsive seizures15Apr 30, 2026
Pyridoxine-dependent epilepsy35Dec 9, 2025
Pyruvate carboxylase deficiency5Apr 30, 2026
Pyruvate dehydrogenase E1-beta deficiency3Oct 23, 2024
Pyruvate dehydrogenase E2 deficiency4Feb 3, 2026
Pyruvate dehydrogenase E3 deficiency9Apr 30, 2026
Pyruvate dehydrogenase E3-binding protein deficiency4Oct 23, 2024
Pyruvate dehydrogenase complex deficiency4Oct 23, 2024
Pyruvate kinase deficiency of red cells3Apr 30, 2026
Quebec platelet disorder1Oct 13, 2022
RAB3GAP1-related disorder4Jun 16, 2025
RAB3GAP2-related disorder2Dec 12, 2025
RAPSN-related disorder1Oct 28, 2025
RASopathy127Apr 30, 2026
RECQL4-related disorder6Nov 15, 2024
RYR1-related disorder2Aug 25, 2023
Radial aplasia-thrombocytopenia syndrome3Dec 12, 2025
Radio-Tartaglia syndrome1Nov 14, 2023
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21Mar 14, 2025
Rafiq syndrome1Sep 11, 2024
Rauch-Steindl syndrome1May 23, 2025
Recessive dystrophic epidermolysis bullosa43Apr 30, 2026
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome4Dec 9, 2025
Renal carnitine transport defect70Apr 30, 2026
Renal cysts and diabetes syndrome16Aug 18, 2011
Renal hypodysplasia/aplasia 11Feb 3, 2026
Renal hypodysplasia/aplasia 32Oct 2, 2023
Renal tubular acidosis with progressive nerve deafness9Apr 30, 2026
Renal-hepatic-pancreatic dysplasia 22Aug 8, 2024
Renpenning syndrome1Jun 16, 2025
Retinal dystrophy21Apr 30, 2026
Retinitis pigmentosa227Apr 30, 2026
Retinitis pigmentosa 434Apr 30, 2026
Retinitis pigmentosa 592Oct 13, 2022
Retinitis pigmentosa 732Jun 16, 2025
Retinoblastoma2Jul 29, 2022
Rett syndrome51Apr 30, 2026
Rh deficiency syndrome1Oct 27, 2023
Rh-null, regulator type1Sep 10, 2024
Rhabdomyolysis, susceptibility to, 11Apr 30, 2026
Rhizomelic chondrodysplasia punctata5Dec 9, 2025
Rhizomelic chondrodysplasia punctata type 118Dec 12, 2025
Right atrial isomerism1Dec 9, 2025
Rippling muscle disease 23Nov 11, 2024
Ritscher-Schinzel syndrome 13Apr 30, 2026
Ritscher-Schinzel syndrome 41Apr 30, 2026
Roberts-SC phocomelia syndrome3Apr 30, 2026
Roifman syndrome3Jun 29, 2024
Rothmund-Thomson syndrome type 32Jun 24, 2025
Rotor syndrome4Nov 11, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations4Mar 14, 2025
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Jul 29, 2022
SAMD9L-related disorder1Mar 16, 2023
SCN1B-related disorder1Dec 12, 2025
SCOTT SYNDROME1Apr 14, 2023
SDHA-related disorder4Jan 27, 2026
SEC23B-related disorder1Apr 19, 2022
SETBP1-related disorder3Feb 14, 2025
SHH-related disorder1Feb 6, 2023
SHORT syndrome1Mar 6, 2020
SHOX-related short stature2Nov 17, 2015
SHQ1-related disorder1Apr 30, 2026
SIM1-related disorder1Dec 2, 2020
SIN3A-related intellectual disability syndrome2Jun 16, 2025
SIX3-related disorder1Apr 30, 2026
SLC12A2-related disorder2Jun 24, 2025
SLC16A1-related disorder3Jun 29, 2024
SLC34A1-related disorder1Jul 1, 2025
SMARCA5-related disorder1Sep 10, 2024
SOX3-related disorder1Feb 3, 2026
SPTB-related disorder1Feb 3, 2026
SQSTM1-related disorder1Apr 30, 2026
SRD5A3-related disorder1Oct 28, 2025
ST3GAL3-related disorder1Jun 24, 2025
STAG2-related disorder1Sep 11, 2024
SYN1-related disorder1Feb 3, 2026
SYNE1-related disorder4May 23, 2025
Salla disease16Mar 14, 2025
Sandhoff disease44Jan 27, 2026
Sanfilippo syndrome27Sep 10, 2024
Sarcotubular myopathy2Apr 30, 2026
Schaaf-Yang syndrome1Jul 15, 2022
Schimke immuno-osseous dysplasia2Jul 1, 2025
Schuurs-Hoeijmakers syndrome1Jun 24, 2025
Schwannomatosis24Apr 30, 2026
Schwartz-Jampel syndrome type 12Dec 9, 2025
Seckel syndrome 13Oct 28, 2025
Seckel syndrome 61Oct 2, 2023
Seckel syndrome 74Feb 3, 2026
Seizures-scoliosis-macrocephaly syndrome1Jul 1, 2025
Severe X-linked myotubular myopathy10Jan 27, 2026
Severe combined immunodeficiency disease204May 1, 2026
Severe combined immunodeficiency due to DCLRE1C deficiency1Feb 3, 2026
Severe combined immunodeficiency due to IKK2 deficiency1Apr 19, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency4Oct 28, 2025
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive2Feb 3, 2026
Severe congenital neutropenia4Jun 24, 2025
Severe early-childhood-onset retinal dystrophy2Apr 30, 2026
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Dec 11, 2024
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Dec 26, 2023
Severe intellectual disability-progressive spastic diplegia syndrome5Oct 23, 2024
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome1May 23, 2025
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature1May 23, 2025
Short stature, microcephaly, and endocrine dysfunction2Dec 12, 2025
Short stature-brachydactyly-obesity-global developmental delay syndrome6Feb 3, 2026
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome2Dec 11, 2024
Short-rib thoracic dysplasia 11 with or without polydactyly4Apr 30, 2026
Short-rib thoracic dysplasia 15 with polydactyly1Jan 27, 2026
Short-rib thoracic dysplasia 19 with or without polydactyly1Jan 26, 2024
Short-rib thoracic dysplasia 8 with or without polydactyly1Sep 10, 2024
Shprintzen-Goldberg syndrome1May 12, 2022
Shwachman-Diamond syndrome 13May 23, 2025
Sialidosis16Feb 3, 2026
Sialidosis type 21Apr 30, 2026
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Siddiqi syndrome1Jun 24, 2025
Sitosterolemia1Oct 23, 2024
Sitosterolemia 12Apr 30, 2026
Sjögren-Larsson syndrome31Feb 3, 2026
Skeletal dysplasia, mild, with joint laxity and advanced bone age1Apr 30, 2026
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Oct 23, 2024
Slow-Channel Congenital Myasthenia Syndrome1Apr 30, 2026
Smith-Lemli-Opitz syndrome63Apr 30, 2026
Smith-Magenis syndrome4Jun 16, 2025
Snijders Blok-Campeau syndrome1Mar 14, 2025
Sotos syndrome7Feb 3, 2026
Spastic Paraglegia 103Feb 3, 2026
Spastic ataxia 21Nov 11, 2024
Spastic ataxia 52Mar 14, 2025
Spastic paraplegia 85, autosomal recessive1Apr 14, 2023
Spastic paraplegia-severe developmental delay-epilepsy syndrome4Apr 30, 2026
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2Oct 2, 2023
Sphingolipid activator protein 1 deficiency1Oct 28, 2025
Sphingomyelin/cholesterol lipidosis46Apr 9, 2026
Spinal muscular atrophy9Jul 1, 2025
Spinal muscular atrophy with lower extremity predominance1Jun 29, 2024
Spinocerebellar ataxia 451May 5, 2024
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 111Aug 25, 2023
Spinocerebellar ataxia type 19/223Dec 11, 2024
Spinocerebellar ataxia type 271Nov 10, 2022
Spinocerebellar ataxia type 283Apr 30, 2026
Spinocerebellar ataxia type 293Dec 9, 2025
Spinocerebellar ataxia type 351Sep 14, 2022
Spinocerebellar ataxia type 52Dec 14, 2022
Spinocerebellar ataxia, autosomal recessive 281May 23, 2025
Spinocerebellar ataxia, autosomal recessive 311Nov 11, 2024
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 23Dec 9, 2025
Sponastrime dysplasia1Sep 11, 2024
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Spondylocostal dysostosis 2, autosomal recessive2Jun 21, 2023
Spondylocostal dysostosis 51Sep 10, 2024
Spondylodysplastic Ehlers-Danlos syndrome5Apr 30, 2026
Spondyloenchondrodysplasia with immune dysregulation2Dec 12, 2025
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1Dec 9, 2025
Spondyloepimetaphyseal dysplasia, Genevieve type1Jan 26, 2024
Spondyloepimetaphyseal dysplasia, Shohat type1May 23, 2025
Spondyloperipheral dysplasia1Jul 29, 2022
Stargardt disease67Apr 30, 2026
Steel syndrome4Dec 9, 2025
Sterol carrier protein 2 deficiency1May 2, 2025
Stickler syndrome3Apr 30, 2026
Striatonigral degeneration, childhood-onset1Dec 11, 2024
Stromme syndrome1Jun 24, 2025
Structural heart defects and renal anomalies syndrome2May 2, 2025
Stuve-Wiedemann syndrome2Jan 27, 2026
Stüve-Wiedemann syndrome 11Apr 19, 2022
Succinate-semialdehyde dehydrogenase deficiency4Oct 2, 2023
Sucrase-isomaltase deficiency4Jan 27, 2026
Sudden cardiac failure, infantile2Jun 13, 2025
Suleiman-El-Hattab syndrome1Feb 3, 2026
Sulfate transporter-related osteochondrodysplasia15Jan 11, 2023
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A5Feb 14, 2025
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1Dec 9, 2025
Sulfocysteinuria12Dec 9, 2025
Supravalvar aortic stenosis2Apr 30, 2026
Symphalangism-brachydactyly syndrome1Mar 14, 2025
Syndromic X-linked intellectual disability 343May 23, 2025
Syndromic X-linked intellectual disability Claes-Jensen type1Jul 15, 2022
Syndromic X-linked intellectual disability Hedera type1Aug 8, 2024
Syndromic X-linked intellectual disability Najm type1Mar 14, 2025
Syndromic X-linked intellectual disability Snyder type1Jun 29, 2024
TAFAZZIN-related disorder1Apr 14, 2023
TARP syndrome1Feb 6, 2023
TBC1D24-related disorder6Apr 30, 2026
TBCE-related disorder6Dec 12, 2025
TBX1-related disorder1Nov 11, 2024
TELO2-related intellectual disability-neurodevelopmental disorder6Apr 30, 2026
TERT-related disorder1Dec 11, 2024
TFG-related disorder1Dec 26, 2023
TG-related disorder16Jul 1, 2025
TNF receptor-associated periodic fever syndrome (TRAPS)1Jun 24, 2025
TOP3A-related disorder1Feb 19, 2024
TOR1A-related disorder1Aug 8, 2024
TRIO-related disorder1Oct 27, 2023
TRIP4-related disorder4Apr 30, 2026
TRNT1-related disorder3Oct 2, 2023
TRPV4-Related Hereditary Motor And Sensory Neuropathy1Feb 3, 2026
Tangier disease2Sep 10, 2024
Tatton-Brown-Rahman overgrowth syndrome1Jan 27, 2026
Tay-Sachs disease77Apr 30, 2026
Temtamy syndrome1Oct 13, 2022
Testosterone 17-beta-dehydrogenase deficiency13May 23, 2025
Thalassemia1May 23, 2025
Thanatophoric dysplasia1Jul 25, 2023
Thrombocytopenia 15Apr 14, 2023
Thrombocytopenia 23Jul 1, 2025
Thrombocytopenia 41Jun 29, 2024
Thrombocytopenia 52Jun 29, 2024
Thrombocytopenia, anemia, and myelofibrosis1Jul 9, 2024
Thrombophilia due to protein C deficiency, autosomal dominant2Feb 3, 2026
Thrombophilia due to thrombin defect2Mar 14, 2025
Thrombotic thrombocytopenic purpura8Apr 30, 2026
Thyroglobulin synthesis defect2Oct 23, 2024
Thyroid dyshormonogenesis 13Jun 24, 2025
Thyroid dyshormonogenesis 613Feb 3, 2026
Thyroid hormone metabolism, abnormal 11Oct 2, 2023
Thyroid hormone resistance, generalized, autosomal dominant27Apr 30, 2026
Torsion dystonia 61Jan 27, 2026
Townes-Brocks syndrome 12Jan 27, 2026
Treacher Collins syndrome 12Jun 29, 2024
Trichohepatoenteric syndrome24Feb 3, 2026
Trichothiodystrophy4Jun 16, 2025
Trimethylaminuria15Dec 9, 2025
Tuberous sclerosis syndrome34Apr 30, 2026
Tumoral calcinosis, hyperphosphatemic, familial, 11Nov 14, 2023
Turcot syndrome1Apr 30, 2026
Type II complement component 8 deficiency1May 23, 2025
Tyrosinase-positive oculocutaneous albinism5Jul 1, 2025
Tyrosinemia type I29Oct 28, 2025
Tyrosinemia type II5Dec 9, 2025
Tyrosinemia type III8Apr 30, 2026
UBA5-related disorder2Oct 28, 2025
UDPglucose-4-epimerase deficiency9Apr 30, 2026
UGT1A1-related disorder3May 23, 2025
UROD-related disorder2Feb 19, 2024
Ullrich congenital muscular dystrophy 1A10Apr 30, 2026
Ullrich congenital muscular dystrophy 23Apr 30, 2026
Uncombable hair syndrome 31May 17, 2023
Unverricht-Lundborg syndrome2Jun 16, 2025
Usher syndrome314Apr 30, 2026
Usher syndrome type 1F31Apr 30, 2026
Usher syndrome type 35Apr 30, 2026
VAMP1-related disorder1Jun 29, 2024
VPS13A-related neurodegenerative disease8Apr 30, 2026
VSX2-related Microphthalmia2Jul 9, 2024
Vanishing white matter disease48Apr 30, 2026
Variegate porphyria1Dec 9, 2025
Very long chain acyl-CoA dehydrogenase deficiency88Apr 30, 2026
Vesicoureteral reflux 82May 2, 2025
Vici syndrome6Feb 3, 2026
Vissers-Bodmer syndrome3Apr 30, 2026
Vitamin D hydroxylation-deficient rickets, type 1B1Feb 6, 2023
Vitamin D-dependent rickets type II with alopecia3Apr 30, 2026
Vitamin D-dependent rickets, type 1A13Jul 1, 2025
Von Hippel-Lindau syndrome75Dec 9, 2025
WARS2-related disorder3Apr 30, 2026
WDR35-related disorder2Jun 29, 2024
WDR4-related disorder3Jul 1, 2025
Waardenburg syndrome type 13Feb 3, 2026
Waardenburg syndrome type 23Feb 3, 2026
Waardenburg syndrome type 2E3Jun 24, 2025
Waardenburg syndrome type 4A1Jun 29, 2024
Warsaw breakage syndrome6Dec 9, 2025
Werner syndrome11Jun 13, 2025
Wiedemann-Steiner syndrome1Feb 19, 2024
Wilms tumor 11May 17, 2023
Wilson disease223Apr 30, 2026
Wiskott-Aldrich syndrome25Apr 30, 2026
Wolcott-Rallison dysplasia2Oct 28, 2025
Wolfram syndrome 114Apr 30, 2026
Wolfram syndrome 21Jul 25, 2023
Wolman disease14Dec 11, 2024
X-Linked Neutropenia (XLN)1Nov 11, 2024
X-linked Alport syndrome34Apr 30, 2026
X-linked Opitz G/BBB syndrome2Jul 9, 2024
X-linked agammaglobulinemia40Apr 30, 2026
X-linked intellectual disability Cabezas type1Feb 14, 2025
X-linked intellectual disability, Cantagrel type2Apr 19, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome2Feb 3, 2026
X-linked lymphoproliferative syndrome3Apr 30, 2026
X-linked severe combined immunodeficiency17Oct 28, 2025
X-linked severe congenital neutropenia1Dec 31, 2020
Xanthinuria type II1Jun 24, 2025
Xeroderma pigmentosum102Feb 3, 2026
YTHDF3-related disorder1Jun 21, 2023
Yoon-Bellen neurodevelopmental syndrome1May 17, 2023
ZIC3-related disorder1Oct 28, 2025
alpha Thalassemia19Apr 30, 2026
beta Thalassemia101Apr 30, 2026
not provided2295Jan 25, 2018
not specified76961May 1, 2026
von Willebrand disorder62Apr 30, 2026